Ernest Beutler

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Ernest Beutler is affiliated with the following schools: Hokkaido University, Nagasaki University, University of Michigan, University of Southern California, Rockefeller University, University of Chicago, Rosalind Franklin University of Medicine and Science, University of Washington

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Masters Medicine University of Chicago

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According to Wikipedia, Ernest Beutler was a German-born American hematologist and biomedical scientist. He made important discoveries about the causes of a number of diseases, including anemias, Gaucher disease, disorders of iron metabolism and Tay–Sachs disease. He was also among the first scientists to identify X-inactivation as the genetic basis of tissue mosaicism in female mammals, and pioneered a number of medical treatments, including bone marrow transplantation techniques. Beutler was the Chairman of Medicine at the City of Hope Medical Center in Duarte, CA from 1959 until 1979 and served as a Professor, then Chairman, of the Department of Molecular and Experimental Medicine at The Scripps Research Institute in La Jolla, California from 1979 until 2008.

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Ernest Beutler's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Improved method for the determination of blood glutathione. (1963) (6661)
Red Cell Metabolism: A Manual of Biochemical Methods (1975) (2976)
Red cell metabolism (1971) (1210)
The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration? (2006) (891)
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? (1998) (834)
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA (2002) (810)
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. (2009) (571)
The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency (2008) (541)
Regulation of hepcidin transcription by interleukin-1 and interleukin-6. (2005) (539)
Lasting remissions in hairy-cell leukemia induced by a single infusion of 2-chlorodeoxyadenosine. (1990) (500)
THE NORMAL HUMAN FEMALE AS A MOSAIC OF X-CHROMOSOME ACTIVITY: STUDIES USING THE GENE FOR G-6-PD-DEFICIENCY AS A MARKER (1962) (480)
Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease (2002) (472)
The glutathione instability of drug-sensitive red cells; a new method for the in vitro detection of drug sensitivity. (1957) (467)
Mutation analysis in hereditary hemochromatosis. (1996) (415)
The human glucocerebrosidase gene and pseudogene: structure and evolution. (1989) (383)
The hemolytic effect of primaquine and related compounds: a review. (1959) (372)
Phosphatidylserine exposure and red cell viability in red cell aging and in hemolytic anemia. (1998) (370)
Gaucher Disease: Clinical, Laboratory, Radiologic, and Genetic Features of 53 Patients (1992) (347)
Effect of flavin compounds on glutathione reductase activity: in vivo and in vitro studies. (1969) (321)
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. (1997) (318)
Purification and properties of human erythrocyte glutathione peroxidase. (1975) (317)
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. (1998) (316)
A missense mutation in human fatty acid amide hydrolase associated with problem drug use (2002) (316)
Cladribine (2-chlorodeoxyadenosine) (1992) (315)
Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. (2008) (314)
Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6 (2006) (301)
Hereditary hemochromatosis: gene discovery and its implications for population-based screening. (1998) (290)
The Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic (2000) (281)
Cladribine in treatment of chronic progressive multiple sclerosis (1994) (278)
Hematologically important mutations: glucose-6-phosphate dehydrogenase. (1996) (278)
PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL (1989) (275)
Interference of heparin with the polymerase chain reaction. (1990) (274)
Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. (2005) (269)
Plasma glutathione in health and in patients with malignant disease. (1985) (263)
Glutathione in red blood cell metabolism (1975) (253)
Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH) (2005) (246)
G6PD: population genetics and clinical manifestations. (1996) (236)
Iron deficiency and overload. (2003) (234)
The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes. (2004) (233)
The transport of oxidized glutathione from human erythrocytes. (1969) (230)
Gaucher disease: gene frequencies in the Ashkenazi Jewish population. (1993) (226)
More on the association of glucose-6-phosphate dehydrogenase deficiency with hairy-cell leukemia. (1991) (226)
The hemolytic effect of primaquine. VI. An in vitro test for sensitivity of erythrocytes to primaquine. (1955) (214)
GLUCOSE‐6‐PHOSPHATE DEHYDROGENASE DEFICIENCY (1970) (207)
The treatment of chronic progressive multiple sclerosis with cladribine. (1996) (206)
Human glucose-6-phosphate dehydrogenase variants. (1971) (205)
Drug-induced hemolytic anemia. (1969) (202)
The hemolytic effect of primaquine. VII. Biochemical studies of drug-sensitive erythrocytes. (1955) (202)
The in vivo regeneration of red cell 2,3 diphosphoglyceric acid (DPG) after transfusion of stored blood. (1969) (199)
Gaucher disease: new molecular approaches to diagnosis and treatment. (1992) (194)
Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development. (2007) (193)
A simple spot screening test for galactosemia. (1966) (193)
Brief Report: Special Modifications of the Fluorescent Screening Method for Glucose-6-Phosphate Dehydrogenase Deficiency (1968) (188)
G6PD deficiency. (1994) (188)
Hemolytic Anemia in Disorders of Red Cell Metabolism (1978) (187)
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. (2005) (186)
2-Chlorodeoxyadenosine: An Effective New Agent for the Treatment of Chronic Lymphocytic Leukemia (1988) (184)
Elevation of serum angiotensin-converting enzyme in Gaucher's disease. (1976) (182)
Regulation of hepcidin and iron-overload disease. (2009) (178)
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. (1985) (176)
2-Chlorodeoxyadenosine treatment of low-grade lymphomas. (1992) (176)
The significance of the 187G (H63D) mutation in hemochromatosis. (1997) (173)
Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. (1968) (168)
Red cell metabolism. A. Defects not causing hemolytic disease. B. Environmental modification. (1972) (168)
Nutritional and metabolic aspects of glutathione. (1989) (166)
Glucose-6-phosphate dehydrogenase deficiency. (1991) (165)
Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage. (1989) (161)
Molecular characterization of a case of atransferrinemia. (2000) (161)
Platelet transfusions: the 20,000/microL trigger [see comments] (1993) (159)
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. (1991) (156)
The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. (1970) (154)
WEST NILE VIRUS : Epidemiology and Clinical Features of an Emerging Epidemic in the United States ∗ (2010) (154)
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. (1989) (153)
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. (2004) (150)
Antileukemic and immunosuppressive activity of 2-chloro-2'-deoxyadenosine. (1984) (150)
Gaucher's disease. (1980) (150)
Accurate measurement of oxidized glutathione content of human, rabbit, and rat red blood cells and tissues. (1968) (149)
Depletion and Regeneration of 2,3‐diphosphoglyceric Acid in Stored Red Blood Cells (1969) (147)
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). (1988) (144)
Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. (2000) (142)
Hematologically important mutations (2005) (141)
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. (2005) (141)
The hemolytic effect of primaquine. II. The natural course of the hemolytic anemia and the mechanism of its self-limited character. (1954) (141)
The genetics of glucose-6-phosphate dehydrogenase deficiency. (1990) (140)
Hemochromatosis: genetics and pathophysiology. (2006) (139)
A less costly regimen of alglucerase to treat Gaucher's disease. (1992) (138)
Clinical disorders of iron metabolism (1963) (138)
Iron therapy in chronically fatigued, nonanemic women: a double-blind study. (1960) (137)
A Double‐Blind, Placebo‐Controlled, Randomized Trial of Cladribine in Relpaasing‐Remitting Multiple Sclerosis (1999) (131)
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. (1991) (131)
Potent toxicity of 2-chlorodeoxyadenosine toward human monocytes in vitro and in vivo. A novel approach to immunosuppressive therapy. (1990) (130)
The hemolytic effect of primaquine. IV. The relationship of cell age to hemolysis. (1954) (129)
Localization and characteristics of hexose 6-phosphate dehydrogenase (glucose dehydrogenase). (1967) (128)
Neonatal Hyperbilirubinemia in Glucose-6-Phosphate Dehydrogenase-deficient Heterozygotes (1999) (128)
Reduced endocannabinoid immune modulation by a common cannabinoid 2 (CB2) receptor gene polymorphism: possible risk for autoimmune disorders (2005) (127)
Value of genetic variants of glucose-6-phosphate dehydrogenase in tracing the origin of malignant tumors. (1967) (127)
Failure of methylene blue treatment in toxic methemoglobinemia. Association with glucose-6-phosphate dehydrogenase deficiency. (1971) (127)
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. (2003) (123)
2-Chlorodeoxyadenosine Treatment of Refractory Chronic Lymphocytic Leukemia. (1991) (123)
2-Chlorodeoxyadenosine activity in patients with untreated chronic lymphocytic leukemia. (1995) (120)
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. (1990) (119)
Population-Based Sample Reveals Gene–Gender Interactions in Blood Pressure in White Americans (2007) (118)
Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation. (1977) (115)
The clinical course of treated and untreated Gaucher disease. A study of 45 patients. (1995) (115)
Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. (1968) (114)
The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. (2003) (114)
2-Chlorodeoxyadenosine: an active agent in the treatment of cutaneous T-cell lymphoma. (1992) (113)
G-6-PD deficiency (1990) (113)
Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations (1997) (112)
Genetics of iron storage and hemochromatosis. (2001) (111)
SIMPLIFIED DETERMINATION OF BLOOD ADENOSINE TRIPHOSPHATE USING THE FIREFLY SYSTEM. (1964) (111)
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. (1965) (110)
Sex-linkage of the Glucose-6-phosphate Dehydrogenase Gene in Equidae (1966) (109)
Glutathione Reductase: Stimulation in Normal Subjects by Riboflavin Supplementation (1969) (109)
Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes. (1966) (109)
Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. (2009) (108)
A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. (2001) (108)
Useful agents for the study of glutathione metabolism in erythroyctes. Organic hydroperoxides. (1974) (108)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
The hemolytic effect of primaquine V. Primaquine sensitivity as a manifestation of a multiple drug sensitivity. (1981) (107)
Sodium-potassium-ATPase activity is influenced by ethnic origin and not by obesity. (1983) (104)
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. (1990) (104)
A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency (1966) (103)
Glutathione transport by inside-out vesicles from human erythrocytes. (1980) (103)
Seeking candidate mutations that affect iron homeostasis. (2002) (102)
Glutathione metabolism of the erythrocyte. The enzymic cleavage of glutathione-haemoglobin preparations by glutathione reductase. (1970) (101)
Iron storage disease: facts, fiction and progress. (2007) (101)
The mechanism of glutathione destruction and protection in drug-sensitive and non-sensitive erythrocytes; in vitro studies. (1957) (101)
Enzyme replacement therapy for Gaucher disease. (1991) (100)
A comparison of the plasma iron, iron-binding capacity, sternal marrow iron and other methods in the clinical evaluation of iron, stores. (1958) (98)
IRON ENZYMES IN IRON DEFICIENCY. I. CYTOCHROME C (1957) (97)
The osmotic fragility of erythrocytes after prolonged liquid storage and after reinfusion. (1982) (97)
Potentiation of the curative action of primaquine in vivax malaria by quinine and chloroquine. (1955) (97)
2-Chlorodeoxyadenosine (2-CdA): A Potent Chemotherapeutic and Immunosuppressive Nucleoside. (1991) (96)
Screening for hemochromatosis by measuring ferritin levels: a more effective approach. (2007) (96)
Binding of heme by glutathione S-transferase: a possible role of the erythrocyte enzyme. (1982) (95)
Consensus recommendations (1989) (92)
Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants. (1989) (92)
Brain Iron Metabolism and Neurodegenerative Disorders (2002) (91)
EFFECTS OF IRON DEFICIENCY EXCLUSIVE OF ANAEMIA (1978) (91)
Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene (1993) (89)
Hexose-6-Phosphate Dehydrogenase Found in Human Liver (1966) (89)
Study of glucose‐6‐phosphate dehydrogenase: History and molecular biology (1993) (89)
PLATELET PROPHYLAXIS IN ACUTE NON-LYMPHOBLASTIC LEUKÆMIA (1978) (89)
Human glucose‐6‐phosphate dehydrogenase variants: a supplementary tabulation (1973) (88)
The hemolytic effect of primaquine. III. A study of primaquine-sensitive erythrocytes. (1954) (88)
DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. (1991) (87)
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. (1995) (87)
Lysosomal storage diseases: natural history and ethical and economic aspects. (2006) (86)
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. (1971) (85)
Purification and properties of human alpha-galactosidases. (1972) (84)
The in Vivo Survival of Red Blood Cells Stored in Modified CPD with Adenine: Report of a Multi‐Institutional Cooperative Effort (1977) (83)
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. (1993) (81)
Abnormalities of the hexose monophosphate shunt. (1971) (81)
METHEMOGLOBIN REDUCTION. STUDIES OF THE INTERACTION BETWEEN CELL POPULATIONS AND OF THE ROLE OF METHYLENE BLUE. (1963) (79)
Studies on Human β-d-N-Acetylhexosaminidases I. PURIFICATION AND PROPERTIES (1974) (79)
A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency. (1966) (79)
2-Chlorodeoxyadenosine: an effective new agent for the treatment of chronic lymphocytic leukemia. (1988) (79)
Identification of six new Gaucher disease mutations. (1993) (77)
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease (1976) (77)
High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. (1990) (76)
A double-blind, placebo-controlled, randomized trial of cladribine in relapsing-remitting multiple sclerosis. (1999) (76)
A new fluorometric method for the determination of pyridoxal 5'-phosphate. (1973) (76)
Glucocerebrosidase (Gaucher disease) (1996) (75)
The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction (2006) (75)
Hematologically important mutations: Gaucher disease. (1997) (75)
Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. (1993) (75)
The effect of methemoglobin formation in sickle cell disease. (1961) (75)
Structure and function correlation in histone H2A peptide-mediated gene transfer (2002) (75)
The genetics of galactose-1-phosphate uridyl transferase deficiency. (1966) (74)
Relationship of Body Iron Stores to Levels of Serum Ferritin, Serum Iron, Unsaturated Iron Binding Capacity and Transferrin Saturation in Patients with Iron Storage Disease (2002) (73)
High-yield entrapment of proteins into erythrocytes. (1977) (73)
Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry (2003) (72)
Erythrocyte glutathione reductase. (1963) (72)
Mutations in Jewish patients with Gaucher disease. (1992) (72)
Gaucher disease mutations in non‐Jewish patients (1993) (72)
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population (2001) (72)
Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer. (1987) (71)
Polymorphisms in the human glucocerebrosidase gene. (1992) (71)
The antimalarial action of primaquine against the blood and tissue stages of falciparum malaria (Panama, P-F-6 strain). (1955) (71)
Hexosaminidase-A and Hexosamini-dase-B: Studies in Tay-Sachs' and Sandhoff's Disease (1973) (71)
Simplified determination of carboxyhemoglobin. (1984) (71)
Enzyme Replacement in Gaucher Disease (2004) (70)
Penetrance of hemochromatosis. (2002) (70)
Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae. (1972) (69)
The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker. (1962) (69)
Methemoglobin formation and reduction in man and various animal species. (1966) (69)
Mutations in Jewish patients with Gaucher disease (1992) (69)
Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. (2001) (69)
Discrepancies between genotype and phenotype in hematology: an important frontier. (2001) (68)
Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. (2002) (68)
Tissue effects of iron deficiency (1964) (68)
Gaucher disease: multiple lessons from a single gene disorder. (2006) (68)
Glucocerebrosidase Mutations in Gaucher Disease (1994) (67)
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients. (1993) (67)
Different regulatory elements are required for response of hepcidin to interleukin‐6 and bone morphogenetic proteins 4 and 9 (2007) (67)
A simple rapid radiometric assay for pyrimidine-5'-nucleotidase. (1977) (66)
Electrophoretic Variation of Galactose-1-Phosphate Uridyltransferase (1966) (66)
The penetrance of hereditary hemochromatosis. (2005) (66)
Glutathione metabolism of the red cells. Effect of glutathione reductase deficiency on the stimulation of hexose monophosphate shunt under oxidative stress. (1970) (65)
Acute hemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. (2001) (65)
The separation of glucose-6-phosphate dehydrogenase deficient erythrocytes from blood of heterozygotes for glucose-6-phosphate dehydrogenase deficiency. (1964) (64)
The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. (1990) (64)
A simplified method for the determination of citric acid. (1959) (64)
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia. (2010) (64)
Galactosemia screening of newborns in Massachusetts. (1971) (63)
Hematologically important mutations: Gaucher disease. (2005) (63)
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. (1986) (63)
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. (2003) (63)
A Simple Method for Detection of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency (G-6-PD Spot Test) (1962) (63)
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). (1975) (62)
Synergy between TLR2 and TLR4: a safety mechanism. (2001) (61)
Histone H2A-mediated transient cytokine gene delivery induces efficient antitumor responses in murine neuroblastoma. (2000) (61)
Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes. (1970) (61)
Suppression of the hepcidin‐encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase‐2/TMPRSS6 (2009) (61)
Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. (2007) (61)
Temperature dependence of sodium-potassium activated erythrocyte adenosine triphosphatase. (1967) (61)
Galactokinase deficiency as a cause of cataracts. (1973) (60)
Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity. (1976) (59)
Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes (1975) (58)
Effect of pH on Preservation of Red Cell ATP * (1965) (58)
Cataract produced by tyrosinase and tyrosine systems in rabbitens in vitro. (1969) (58)
The transport of oxidized glutathione from the erythrocytes of various species in the presence of chromate. (1969) (57)
Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. (2003) (57)
Genetic Variation of Glucose‐6‐Phosphate Dehydrogenase: A Catalog and Future Prospects (1988) (56)
Mutation nomenclature: Nicknames, systematic names, and unique identifiers (1996) (55)
PGK deficiency (2007) (55)
A comparison of normal red cell ATP levels as measured by the firefly system and the hexokinase system. (1967) (55)
2-Chlorodeoxyadenosine dose escalation in nonhematologic malignancies. (1993) (55)
Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene. (2001) (54)
Human transferrin G277S mutation: a risk factor for iron deficiency anaemia (2001) (54)
The Molecular Basis of a Case of γ-Glutamylcysteine Synthetase Deficiency (1999) (54)
"Pumping" Iron: The Proteins (2004) (54)
Studies on human β D N acetylhexosaminidases. III. Biochemical genetics of Tay Sachs and Sandhoof's diseases (1974) (54)
The human glucocerebrosidase gene has two functional ATG initiator codons. (1987) (53)
The molecular biology of G6PD variants and other red cell enzyme defects. (1992) (53)
Thalassemia minor: routine erythrocyte measurements and differentiation from iron deficiency. (1983) (53)
Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A. (1990) (53)
Transport accounts for glutathione turnover in human erythrocytes. (1979) (53)
Hexokinase Isoenzymes in Human Erythrocytes (1968) (52)
Gaucher's disease. (1980) (52)
Glutathione-dependent protection against oxidative damage of the human red cell membrane. (1984) (52)
Studying X inactivation (1992) (50)
Haptoglobin polymorphism and iron homeostasis. (2002) (50)
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. (1971) (50)
8 Enzyme replacement therapy for Gaucher's disease (1997) (49)
The storage of hard-packed red blood cells in citrate-phosphate-dextrose (CPD) and CPD-adenine (CPDA-1). (1979) (49)
Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. (2002) (49)
Studies on Human β-d-N-Acetylhexosaminidases II. KINETIC AND STRUCTURAL PROPERTIES (1974) (49)
The effect of normal red cell constituents on the activities of red cell enzymes. (1972) (49)
Molecular characterization of a third case of human atransferrinemia. (2004) (49)
Hexose-6-phosphate dehydrogenase: distribution in rat tissues and effect of diet, age and steroids. (1970) (49)
The relationship of red cell enzymes to red cell life-span. (1988) (48)
Cleavage of lens protein-GSH mixed disulfide by glutathione reductase. (1973) (48)
Red cell enzyme defects as nondiseases and as diseases. (1979) (48)
The red cell indices in the diagnosis of iron-deficiency anemia. (1959) (48)
Hemojuvelin (HJV) mutations in persons of European, African‐American and Asian ancestry with adult onset haemochromatosis (2004) (48)
Homology between a human protein and a protein of the green garden pea. (1994) (48)
Hematologically important mutations: Gaucher disease. (1998) (48)
The common anemias. (1988) (47)
Pulmonary Hypertension Developing after Alglucerase Therapy in Two Patients with Type 1 Gaucher Disease Complicated by the Hepatopulmonary Syndrome (1996) (47)
Glucose-6-Phosphate Dehydrogenase (1986) (47)
Iron enzymes in iron deficiency. V. Succinic dehydrogenase in rat liver, kidney and heart. (1960) (47)
Red cell aldolase deficiency and hemolytic anemia: a new syndrome. (1973) (45)
GENE INACTIVATION: THE DISTRIBUTION OF GENE PRODUCTS AMONG POPULATIONS OF CELLS IN HETEROZYGOUS HUMANS. (1964) (45)
Studies on gamma-glutamyl transpeptidase in human and rabbit erythrocytes. (1976) (45)
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). (1997) (44)
Improved assay of the enzymes of glutathione synthesis: gamma-glutamylcysteine synthetase and glutathione synthetase. (1986) (44)
HOW DO RED CELL ENZYMES AGE? A NEW PERSPECTIVE (1985) (44)
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion (1994) (44)
2-Chlorodeoxyadenosine chemotherapy triggers programmed cell death in normal and malignant lymphocytes. (1991) (44)
Haemoglobin and ferritin concentrations in men and women: cross sectional study (2002) (44)
Glutathione disulfide-stimulated Mg2+-ATPase of human erythrocyte membranes. (1987) (43)
Gene Therapy of Human Disease (2002) (43)
Platelet transfusions: the 20,000/microL trigger. (1993) (43)
G‐6‐PD variants: another up‐date (1983) (43)
A NEW METHOD FOR THE DETECTION OF GALACTOXEMIA AND ITS CARRIER STATE. (1964) (43)
Studies on glutathione transport utilizing inside-out vesicles prepared from human erythrocytes. (1981) (43)
Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a beagle. (1975) (43)
A New Case of Human Atransferrinemia with a Previously Undescribed Mutation in the Transferrin Gene (2007) (42)
Histone H2A Significantly Enhances In Vitro DNA Transfection (1997) (42)
Glutathione peroxidase deficiency and childhood seizures (1991) (42)
Relationship between Glutathione Reductase Activity and Drug-induced Haemolytic Anaemia (1970) (42)
"Galactose Dehydrogenase," "Nothing Dehydrogenase," and Alcohol Dehydrogenase: Interrelation (1967) (42)
Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes. (1985) (41)
Marrow suppression produced by repeated doses of cladribine. (1994) (41)
Effect of Ozone on Red Blood Cell Enzymes and Intermediates (2000) (41)
Ethnic variation in red cell glutathione peroxidase activity (1975) (41)
HEMOTOLOGICALLY IMPORTANT MUTATIONS : GLUSOSE-6-PHOSPHATE DEHYDROGENASE (1996) (41)
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. (1985) (41)
The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans. (1992) (41)
Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia. (1972) (41)
Hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency: report of eight cases in six families. (1980) (41)
The effect of continuous and intermittent primaquine therapy on the relapse rate of Chesson strain vivax malaria. (1954) (41)
The mechanism of removal of leukocytes by cellulose columns. (1986) (41)
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. (1990) (41)
The effect of transferrin polymorphisms on iron metabolism. (1999) (40)
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. (1978) (40)
Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase. (1976) (40)
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose‐6‐phosphate dehydrogenase (G‐6‐PD) deficiency (2004) (40)
Active transport of GSSG from reconstituted erythrocyte ghosts. (1975) (40)
Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'. (1991) (40)
Effect of Sickle-cell Trait on Resistance to Malaria* (1955) (39)
The International Federation of Clinical Chemistry. (1979) (39)
Comment concerning a fluorometric assay for glutathione. (1977) (39)
Glucose-6-phosphate dehydrogenase deficiency. Diagnosis, clinical and genetic implications. (1967) (39)
Treatment of multiple sclerosis and other autoimmune diseases with cladribine. (1996) (39)
Platelet Glycolysis in Platelet Storage IV. The Effect of Supplemental Glucose and Adenine (1980) (39)
Asian Genotypes of JC Virus in Japanese-Americans Suggest Familial Transmission (2002) (39)
Volume control of erythrocytes during storage (1988) (39)
Age-Related Red Cell Enzymes in Children with Transient Erythroblastopenia of Childhood and with Hemolytic Anemia (1985) (38)
HLA-H and Associated Proteins in Patients with Hemochromatosis (1997) (38)
New rapid method for the estimation of red cell galactose-1-phosphate uridyl transferase activity. (1968) (38)
Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii (1993) (38)
The effect of carbon monoxide on red cell life span in sickle cell disease. (1975) (38)
Creatine, 2,3-diphosphoglycerate and anemia. (1971) (38)
Permeability of normal and glucose-6-phosphate dehydrogenase deficient erythrocytes to glutathione. (1967) (38)
2,3-diphosphoglycerate affects enzymes of glucose metabolism in red blood cells. (1971) (38)
Hazards of indiscriminate screening for sickling. (1971) (37)
Cross-reacting material in Gaucher disease fibroblasts. (1984) (37)
Masking of Macrocytosis by α-Thalassemia in Blacks with Pernicious Anemia (1982) (37)
Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. (1983) (37)
History of iron in medicine. (2002) (37)
Large-scale screening for HFE mutations: methodology and cost. (2000) (37)
Bone morphogenetic proteins 2 , 4 , and 9 stimulate murine hepcidin 1 expression independently of Hfe , transferrin receptor 2 ( Tfr 2 ) , and IL-6 (2006) (36)
Auxiliary pathways of galactose metabolism. Identification of reaction products of hexose 6-phosphate dehydrogenase and of "galactose dehydrogenase". (1969) (36)
Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations. (2007) (36)
Hybridization of Glucose-6-Phosphate Dehydrogenase from Rat and Human Erythrocytes (1965) (36)
HLA-H mutations in the Ashkenazi Jewish population. (1997) (36)
Dihydroxyacetone metabolism by human erythrocytes: demonstration of triokinase activity and its characterization. (1973) (35)
New glucose-6-phosphate dehydrogenase mutations from various ethnic groups (1992) (35)
Triose phosphate isomerase deficiency. (1977) (35)
Clinical evaluation of iron stores. (1957) (35)
New diallelic markers in the HLA region of chromosome 6. (1997) (35)
Enzymatic Diagnosis in Non‐Spherocytic Hemolytic Anemia (1988) (35)
Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia. (1990) (35)
Five new Gaucher disease mutations. (1995) (35)
Disorders in glutathione metabolism. (1975) (35)
Storage of Erythrocytes in Artificial Media (1971) (35)
Isolation of the aged. (1988) (35)
Iron enzymes in iron deficiency. II. Catalase in human erythrocytes. (1958) (34)
Neonatal jaundice in Saudi newborns with G6PD Aures. (1996) (34)
Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia. (1983) (34)
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease. (1986) (34)
A previously undescribed nonsense mutation of the HFE gene (2002) (34)
Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica (1991) (34)
Development of cladribine treatment in multiple sclerosis (1996) (33)
New chemotherapeutic agent: 2-chlorodeoxyadenosine. (1994) (33)
Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. (1992) (33)
Ethnic variation in red cell glutathione peroxidase activity. (1975) (33)
Modern diagnosis and treatment of Gaucher's disease. (1993) (33)
The Preservation of Red Cell ATP (1966) (33)
Molecular characterization of glucose-6-phosphate dehydrogenase variants from Brazil. (1993) (32)
The effect of methylene blue and diaminodiphenysulfone on red cell reduced glutathione synthesis. (1972) (32)
The subunits of human hexosaminidase A. (1976) (32)
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. (1999) (32)
Misuse of marrow examination in the diagnosis of Gaucher disease (1990) (32)
Economic malpractice in the treatment of Gaucher's disease. (1994) (32)
Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome. (1998) (32)
Measurement of the viability of stored red cells by the single‐isotope technique using 51Cr. Analysis of validity (1984) (32)
Complete hematologic remissions in chronic‐phase, philadelphia‐chromosome‐positive, chronic myelogenous leukemia after 2‐chlorodeoxyadenosine (1994) (31)
The role of STAT, AP-1, E-box and TIEG motifs in the regulation of hepcidin by IL-6 and BMP-9: lessons from human HAMP and murine Hamp1 and Hamp2 gene promoters. (2007) (31)
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. (1994) (31)
The association of Gaucher's disease and dysproteinemias. (1980) (31)
Hemoglobin Duarte: (α2β262(E6)Ala→Pro): A New Unstable Hemoglobin With Increased Oxygen Affinity (1974) (31)
Preservation of red cell 2,3-DPG and viability in bicarbonate-containing medium: the effect of blood-bag permeability. (1972) (31)
The use of Cr51 and Fe59 in a combined procedure to study erythrocyte production and destruction in normal human subjects and in patients with hemolytic or aplastic anemia. (1955) (31)
Glucose-6-phosphate dehydrogenase variants in Hawaii. (1992) (30)
Glucose-6-phosphate dehydrogenase: new perspectives [see comments] (1989) (30)
Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain. (1997) (30)
Erythrocyte Viability in Blood Salvaged During Total Joint Arthroplasty with Cement (2002) (30)
High glucose concentrations partially release hexokinase from inhibition by glucose 6-phosphate. (1985) (30)
Letter: Diagnosis of G.-6-P.D. deficiency. (1975) (30)
The distal location of the iron responsive region of the hepcidin promoter. (2007) (30)
Prevalence of glucose-6-phosphate dehydrogenase deficiency in sickle-cell disease. (1974) (30)
The preservation of red cell ATP: the effect of phosphate. (1966) (29)
Failure of Alglucerase Infused into Gaucher Disease Patients to Localize in Marrow Macrophages (1995) (29)
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany (1997) (29)
Purification and kinetic studies of adenine phosphoribosyltransferase from human erythrocytes. (1971) (29)
Mannose metabolism in the human erythrocyte. (1969) (29)
2 Gaucher Disease11This is manuscript 8587-MEM from The Scripps Research Institute. Supported by National Institutes of Health Grants DK36639 and RR00833 and the Sam Stein and Rose Stein Charitable Trust Fund. (1995) (29)
Iron enzymes in iron deficiency. IV. Cytochrome oxidase in rat kidney and heart. (1959) (29)
Cladribine in the treatment of hairy-cell leukaemia. (2003) (29)
Iron enzymes in iron deficiency. VI. Aconitase activity and citrate metabolism. (1959) (29)
Antibody against purified human hexosaminidase B cross-reacting with human hexosaminidase A. (1972) (29)
The reduction of glyceraldehyde by human erythrocytes. L-hexonate dehydrogenase activity. (1974) (29)
In vivo viability of red blood cells stored in CPDA‐2 (1982) (29)
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain (2005) (28)
Biochemical and electrophoretic studies of erythrocyte pyridoxine kinase in white and black Americans. (1976) (28)
Incorporation of glucocerebrosidase into Gaucher's disease monocytes in vitro. (1979) (28)
Galactosemia: screening and diagnosis. (1991) (28)
Downeast anemia (dea), a new mouse model of severe nonspherocytic hemolytic anemia caused by hexokinase (HK(1)) deficiency. (2001) (28)
The reversibility of N-ethylmaleimide (NEM) alkylation of red cell glutathione. (1970) (28)
Gaucher disease associated with a unique Kphl restriction site: identification of the amino‐acid substitution (1990) (28)
Misuse of marrow examination in the diagnosis of Gaucher disease. (1990) (28)
Purification and properties of human erythrocyte pyrimidine 5'-nucleotidase. (1977) (28)
New developments in hereditary hemochromatosis. (1999) (28)
Human glucose phosphate isomerase: exon mapping and gene structure. (1995) (28)
The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet. (2001) (27)
Brief Report: Chromosome-21 and Paroxysmal Nocturnal Hemoglobinuria (1964) (27)
In vivo aging of red cell enzymes: Study of biotinylated red blood cells in rabbits (1990) (27)
Tumor necrosis factor alpha promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation. (2002) (27)
In vivo imaging of hepcidin promoter stimulation by iron and inflammation. (2007) (27)
The development of acute myelogenous leukemia in a patient with reticulum cell lymphoma. (1954) (27)
Correlation Between Adenylate Metabolizing Enzymes and Adenine Nucleotide Levels of Erythrocytes During Blood Storage in Various Media (1972) (27)
Responsiveness of the Scripps Neurologic Rating Scale During a Multiple Sclerosis Clinical Trial (1999) (27)
The Effect of Ascorbate on the Maintenance of 2,3‐Diphosphoglycerate (2,3‐DPG) in Stored Red Cells (1973) (27)
Current status of red-cell preservation and availability in relation to the developing national blood policy. (1974) (27)
Biochemical properties of human red cell galactose-1-phosphate uridyl transferase (UDP glucose: alpha-D-galactose-1-phosphate uridyltransferase E.C.2.7.7.12) from normal and mutant subjects. (1966) (27)
The effect of triiodothyronine on the oxidative metabolism of erythrocytes. I. Cellular studies. (1959) (26)
Biochemical characteristics of galactokinase from adult and fetal human red cells. (1967) (26)
Recommended methods for an additional red cell enzyme (pyrimidine 5'-nucleotidase) assay and the determination of red cell adenosine-5'-triphosphate, 2,3-diphosphoglycerate and reduced glutathione. International Committee for Standardization in Haematology. (1989) (26)
The regulation of iron absorption. I. A search for humoral factors. (1960) (26)
Hematopoietic Cell Transplantation in the Future (2009) (26)
Galactose cataract in riboflavin deficient rats. (1972) (26)
A simple, rapid, efficient method for the preparation of gamma 32P-labeled guanosine triphosphate (GTP) and adenosine triphosphate (ATP). (1976) (26)
The assay of red cell galactokinase (1971) (26)
Iron enzvmes in iron deficiency. III. Catalase in rat red cells and liver with some further observations on cytochrome C. (1958) (26)
Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. (2006) (25)
The sorbitol-oxidizing enzyme of red blood cells. (1975) (25)
The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA (2006) (25)
Population screening in hereditary hemochromatosis. (2000) (25)
Pyruvate effect in maintenance of ATP and 2,3-DPG of stored blood. (1971) (25)
Red cell glutathione peroxidase polymorphism in Afro-Americans. (1974) (25)
Immunological difference between glucose-6-P dehydrogenase and hexose-6-P dehydrogenase from human liver. (1972) (25)
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. (2002) (24)
IRON ENZYMES IN IRON DEFICIENCY: VII. OXYGEN CONSUMPTION MEASUREMENTS IN IRON‐DEFICIENT SUBJECTS (1960) (24)
The effect of sodium nitrite and para-aminopropriophenone administration on blood methemoglobin levels and red blood cell survival. (1961) (24)
Glutathione Deficiency, Pyroglutamic Acidemia and Amino Acid Transport (1976) (24)
Can the risk of acetazolamide-induced aplastic anemia be decreased by periodic monitoring of blood cell counts? (1987) (24)
New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. (1992) (24)
Electrophoretic polymorphism of glutathione peroxidase (1974) (24)
The anemia of ageing is not associated with increased plasma hepcidin levels. (2008) (24)
Gaucher's disease in an asymptomatic 72-year-old. (1977) (23)
G6PD Variants in Three South American Ethnic Groups: Population Distribution and Description of Two New Mutations (1998) (23)
Effect of anti-spectrin antibody and ATP on deformability of resealed erythrocyte membranes. (1978) (23)
Mutations in pyruvate kinase (1996) (23)
Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues. (1989) (23)
Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families (1995) (23)
Recommended screening test for pyrimidine 5'-nucleotidase deficiency. International Committee for Standardization in Haematology. (1989) (23)
G-6PD Bangkok: a new variant found in congenital nonspherocytic hemolytic disease (CNHD). (1969) (22)
Synthesis of riboflavin nucleotides by mature human erythrocytes. (1970) (22)
Pyridoxal kinase: decreased activity in red blood cells of Afro-Americans. (1975) (22)
Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria (2000) (22)
Soluble Transferrin Receptor-1 Levels in Mice Do Not Affect Iron Absorption (2006) (22)
The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families. (1996) (22)
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. (1985) (22)
Glucosephosphate-isomerase (GPI) deficiency: GPI elyria. (1974) (22)
Molecular genetics of glucose-6-phosphate dehydrogenase deficiency in Mexico. (1997) (22)
Developmental changes in glucose transport of guinea pig erythrocytes. (1980) (21)
Comparison of magnetic resonance imaging and ultrasound in evaluating liver size in Gaucher patients. (1994) (21)
Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant. (1973) (21)
Three new exon 10 glucose-6-phosphate dehydrogenase mutations. (1995) (21)
Acquired sulfhemoglobinemia. An underreported diagnosis? (1998) (21)
Permeability of Normal and Cataractous Rabbit Lenses to Glutathione∗ (1968) (21)
Gaucher disease (1995) (21)
The role of methemoglobin in oxidative degradation of hemoglobin. (1962) (20)
Fluorometric analysts of glycolytic intermediates in human red blood cells. (1973) (20)
What is the clinical importance of alterations of the hemoglobin oxygen affinity in preserved blood--especially as produced by variations of red cell 2,3 DPG content? (1978) (20)
Hepcidin mimetics from microorganisms? A possible explanation for the effect of Helicobacter pylori on iron homeostasis. (2007) (20)
Field test of galactosemia screening methods in newborn infants. (1967) (20)
The bone marrow and liver in iron-deficiency anemia; a histopathologic study of sections with special reference to the stainable iron content. (1954) (20)
The utilization of saccharated Fe59 oxide in red cell formation. (1958) (20)
1342C mutation in Gaucher's disease (1995) (20)
The hemolytic effect of primaquine. V. Primaquine sensitivity as a manifestation of a multiple drug sensitivity. (1955) (20)
Enzyme replacement therapy in type I Gaucher disease. (1991) (19)
Hereditary hemochromatosis: screening and management. (2006) (19)
A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation. (2000) (19)
Six New Gaucher Disease Mutations (1998) (19)
The Cline affair. (2001) (19)
Purification and characterization of human erythrocyte pyridoxine kinase. (1975) (19)
Some Mexican glucose-6-phosphate dehydrogenase variants revisited (1991) (19)
Comparison of structure and function of human erythrocyte and human muscle actin. (1979) (19)
The regulation of iron absorption. II. Relationship between iron dosage and iron absorption. (1962) (19)
Gaucher disease: four families with previously undescribed mutations. (1996) (19)
Nonenzymatic conversion of human hexosaminidase A. (1975) (19)
Anomeric Specificity of Human Erythrocyte Glucose-6-Phosphate Dehydrogenase.∗ (1966) (19)
Oxidized glutathione levels in erythrocytes of glucose-6-phosphate-dehydrogenase-deficient subjects. (1968) (19)
Storage of red cell concentrates in CPD-A2 for 42 and 49 days. (1983) (19)
Effect of oxalate and malonate on red cell metabolism. (1987) (19)
Depletion of red cell ATP by incubation with 2-deoxyglucose. (1979) (19)
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan origin (2007) (19)
Erythrocyte sodium-potassium-ATPase and obesity. (1982) (19)
2-Chlorodeoxyadenosine: hairy cell leukemia takes a surprising turn. (1993) (19)
In Vitro Metabolism of Packed Erythrocytes Stored in CPD‐Adenine (2003) (18)
Placental acid hydrolase purification on concanavalin A-sepharose. (1975) (18)
Increased glutathione peroxidase activity in alpha-thalassemia. (1977) (18)
Assay for human erythrocyte pyridoxine kinase. (1975) (18)
Incidence of the Erythrocytic Defect associated with Drug-Sensitivity among Oriental Subjects (1959) (18)
Acid hydrolases in normal B and T blood lymphocytes. (1978) (18)
Commentary: Dosage–Response in the Treatment of Gaucher Disease by Enzyme Replacement Therapy (2000) (18)
Genetic disorders of red cell metabolism. (1969) (18)
The role of bone marrow transplantation in the treatment of acute leukemia in remission. (1982) (18)
Disorders due to enzyme defects in the red blood cell. (1972) (18)
Polymorphisms in the transferrin 5' flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis. (2001) (18)
[8] Thiol transport from human red blood cells (1995) (17)
Perforated duodenal ulcer with neutropenia and death in a patient receiving phenylbutazone therapy. (1953) (17)
Evaluation of sickle hemoglobin and desickling agents by falling ball viscometry. (1972) (17)
Glucose-6-phosphate dehydrogenase: new perspectives. (1989) (17)
The cost of treating Gaucher disease (1996) (17)
Hereditary non‐spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies (2001) (17)
Simple and rapid purification of inside-out vesicles from human erythrocytes. (1980) (17)
Hematologically important mutations: glucose-6-phosphate dehydrogenase. (1996) (17)
Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams. (1999) (17)
Glucose-6-phosphate dehydrogenase variants: reexamination of G6PD Chicago and Cornell and a new variant (G6PD Pea Ridge) resembling G6PD Chicago. (1980) (17)
Drugs for Iron Overload (1963) (17)
The effect of 2,3-DPG on the sickling phenomenon. (1971) (17)
An assay for terminal deoxynucleotidyl transferase in leukocytes and bone marrow. (1978) (17)
Hematologically important mutations: iron storage diseases. (2004) (17)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency-type Zurich: a splice site mutation as an uncommon mechanism producing enzyme deficiency. (2004) (17)
Mutations in the gene encoding cytosolic β-glucosidase in Gaucher disease (2004) (17)
The effect of 2,3‐DPG on red cell phosphofructokinase (1973) (17)
Hemoglobin pasadena, α2β275(E19)Leu→Arg Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity (1980) (16)
Variability of -galactosidase A and B in different tissues of man. (1973) (16)
Editorial: "A Shift to the Left" or "A Shift to the Right" in the Regulation of Erythropoiesis (1969) (16)
Genetic screening for low-penetrance variants in protein-coding genes. (2009) (16)
Electrophoresis of phosphoglycerate kinase (1969) (16)
Back to the future in RBC preservation (2000) (16)
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. (2004) (16)
The effect of ammonium, phosphate, potassium, and hypotonicity on stored red cells (1992) (16)
Platelet Glycolysis in Platelet Storage (1979) (16)
Gaucher disease: retrovirus-mediated correction of the enzymatic defect in cultured cells. (1986) (16)
Iron absorption in carriers of the C282Y hemochromatosis mutation. (2004) (16)
The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency. (1998) (16)
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. (2003) (16)
Prevalence of type 1 Gaucher disease in the United States. (2008) (16)
The C282Y mutation does not shorten life span. (2002) (16)
alpha-galactosidase A from human placenta. Stability and subunit size. (1977) (16)
hemoglobin concentration ? the lower limit of normal of the bloodisThe definition of anemia : what (2006) (16)
Aconitase in human blood. (1959) (15)
Erythrocyte cellular and membrane deformability in hereditary spherocytosis (1979) (15)
Carrier screening for Gaucher disease: more harm than good? (2007) (15)
G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP (1997) (15)
Enzyme replacement therapy (1981) (15)
Erythrocyte glutathione S-transferase deficiency and hemolytic anemia. (1988) (15)
Editorial: L-Dopa and Favism (1970) (15)
Relationship between Human α-Galactosidase Isozymes (1972) (15)
Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype. (2005) (15)
Prenatal diagnosis of glucose-6-phosphate-dehydrogenase deficiency. (1992) (15)
A rapid simplified assay for galactokinase activity in whole blood. (1973) (15)
Detection of Gaucher's disease and its carrier state from fibroblast cultures. (1970) (15)
Red-Light Thresholds in Heterozygote Carriers of Protanopia: Genetic Implications (1965) (15)
Chromosomal constitution in glucose-6-phosphatate-dehydrogenase deficiency. (1961) (15)
Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome (2001) (15)
How little we know about the absorption of iron. (1997) (15)
The in vivo ageing of red cell enzymes: direct evidence of biphasic decay from polycythaemic rabbits with reticulocytosis (1988) (15)
Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency". (1987) (14)
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia (2006) (14)
Hemoglobin Hammersmith (beta 42 (CD1) Phe replaced by Ser) associated with severe hemolytic anemia. (1981) (14)
Starch gel electrophoresis of phosphofructokinase in red cells. (1974) (14)
Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. (2002) (14)
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote (2004) (14)
THE SEPARATION OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE-DEFICIENT ERYTHROCYTES FROM THE BLOOD OF HETEROZYGOTES FOR GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY. (1964) (14)
G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene (1993) (14)
Glucose-6-phosphate dehydrogenase deficiency and red cell glutathione peroxidase. (1977) (14)
Glycolytic enzymes of stored granulocytes (1984) (14)
Natural history of hemochromatosis. (2004) (14)
A Chimeric Mouse Model of Gaucher Disease (2002) (14)
alpha-Thalassemia: prevalence and hematologic findings in American Blacks. (1982) (14)
A Case of Nonneurologic Gaucher's Disease that Biochemically Resembles the Neurologic Types (1991) (14)
Effect of Normal Metabolites on the Oxygen-Hemoglobin Equilibrium 1 (1970) (14)
Preservation of Red Cell 2, 3‐Diphosphoglycerate in Modified ACD Solution and in Experimental Artificial Storage Media 1 (1971) (14)
Cellular mosaicism and heterogeneity in red cell disorders. (1966) (14)
Drug-induced Hæmolytic Anæmias and the Mechanism and Significance of Heinz Body Formation in Red Blood Cells (1962) (14)
Hereditary hemolytic anemia due to glucose-6-phosphate dehydrogenase Torrance: a new variant. (1969) (14)
PSEUDO-MOSAICISM IN MALES WITH MILD GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY. (1965) (14)
Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). (1995) (14)
A simplified method for studies of haemoglobin biosynthesis. (1980) (14)
Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency. (1978) (13)
Treatment regimens in Gaucher's disease (1995) (13)
Coincidence of Gaucher's disease due to a private mutation and Ph′ positive chronic myeloid leukemia (1998) (13)
Red cell glycolytic intermediates in diabetic patients. (1980) (13)
Molecular biology of G 6 PD variants. (1990) (13)
Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (2000) (13)
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report. (2009) (13)
Hypointense and Hyperintense Lesions on Magnetic Resonance Imaging in Secondary-Progressive MS Patients (1999) (13)
A method for the establishment and long-term maintenance of in vitro monocytic cultures with functional and morphological homogeneity (1982) (13)
Sequence of a cDNA clone encoding a rat Reg-2 protein. (1992) (13)
Masking of macrocytosis by alpha-thalassemia in blacks with pernicious anemia. (1982) (13)
Chronic severe hemolytic anemia due to G-6-PD Charleston: a new deficient variant. (1972) (13)
Erythrocyte cellular and membrane deformability in hereditary spherocytosis. (1979) (13)
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND NONSPHEROCYTIC CONGENITAL HEMOLYTIC ANEMIA. (1965) (13)
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. (2006) (13)
Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells. (1976) (13)
Prenatal molecular diagnosis of gaucher disease (1995) (13)
A Juvenile Hemochromatosis Patient Homozygous for a Novel Deletion of cDNA Nucleotide 81 of Hemojuvelin (2006) (13)
Studies on Blood Preservation. The Relative Capacities of Hexoses, Hexitols, and Ethanol to Maintain Red Cell ATP Levels during Storage (1966) (13)
Hereditary and acquired sideroblastic anemias (1995) (13)
Hemoglobin Great Lakes (beta 68 [E12] leucine replaced by histidine): a new high-affinity hemoglobin (1981) (13)
HOW DO RED CELL ENZYMES AGE? HYPOTHESIS AND FACTS (1986) (13)
Glucose-6-phosphate dehydrogenase variants in the chimpanzee. (1978) (13)
Terminal transferase in leukemia of adults. (1979) (12)
The effect of periodic mixing on the preservation of 2,3-diphosphoglycerate (2,3-DPG) levels in stored blood. (1973) (12)
Comprar Williams Hematology 8th Ed + DVD | Ernest Beutler | 9780071621519 | Mcgraw-Hill Education (2010) (12)
GPI Mount Scopus — a variant of glucosephosphate isomerase deficiency (1993) (12)
CHROMOSOME-21 AND PAROXYSMAL NOCTURNAL HEMOGLOBINURIA. (1964) (12)
A comparison of two neurologic scoring instruments for multiple sclerosis (1996) (12)
The molecular basis of blood diseases. G. Stamatoyannopoulos, A.W. Nienhuis, P. Leder, P.W. Majerus. Philadelphia: W.B. Saunders Company, 1987, 747 pp $95.00 (1988) (12)
The Effect of Ascorbate and Dihydroxyacetone on the 2,3‐Diphosphoglycerate and ATP Levels of Stored Human Red Cells (1974) (12)
The metabolism of dihydroxyacetone by intact erythrocytes. (1973) (12)
"Clonal" remission in acute leukemia. (1984) (12)
The effect of additives on red cell 2,3 diphosphoglycerate levels in CPDA preservatives (1989) (12)
Targeted disruption of the HFE gene. (1998) (12)
Reference manager. (1987) (12)
Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. (2003) (12)
Human red cell glucose-6-phosphate dehydrogenase: All active enzyme has sequence predicted by the X chromosome-encoded cDNA (1990) (11)
Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency. (2001) (11)
Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district (1993) (11)
Acute myelofibrosis. Treatment with allogeneic bone marrow transplantation. (1983) (11)
NADH-ferric reductase activity associated with dihydropteridine reductase. (2000) (11)
Biphasic loss of red cell enzyme activity during in vivo aging. (1985) (11)
Cladribine treatment of multiple sclerosis (1994) (11)
G-6-PD Long Prairie: a new glucose-6-phosphate dehydrogenase mutant exhibiting normal sensitivity to inhibition by NADPH and accompanied by nonspherocytic hemolytic anemia. (1977) (11)
Nonspherocytic congenital hemolytic anemia due to a new G-6-pd variant: g-6-pd alhambra. (1970) (11)
Comment on “study of glucose‐6‐phosphate dehydrogenase: History and molecular biology,” by Ernest Beutler, Am J Hematol 42:53–58, 1993 (1993) (11)
Toll-like receptor 4 polymorphisms and atherogenesis. (2002) (11)
DRUG-INDUCED BLOOD DYSCRASIAS. III. HEMOLYTIC ANEMIA. (1964) (11)
The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis. (2004) (11)
Hypothesis: changes in the O2 dissociation curve and sickling: a general formulation and therapeutic strategy. (1974) (11)
Mechanism of stimulation of the hexose monophosphate shunt of erythrocytes by pyruvate. (1974) (11)
The molecular biology of variation in glucose-6-phosphate dehydrogenase. (1989) (11)
G‐6‐PD Walter Reed: Possible insight into “structural” NADP in G‐6‐PD (1986) (11)
Editorial: Why has the autohemolysis test not gone the way of the cephalin flocculation test? (1978) (11)
Hair iron content: possible marker to complement monitoring therapy of iron deficiency in patients with chronic inflammatory bowel disease? (1996) (11)
Penetrance of haemochromatosis (2003) (11)
Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy. (2000) (11)
Gaucher disease [1] (multiple letters) (1999) (11)
Glycosylated minor C, D, and E hemoglobins. (1981) (11)
G6PD Mount Sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D) (1998) (11)
Red cell enzyme defects. (1990) (11)
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes. (2000) (11)
Factors influencing the preservation of red cell ATP on storage. (1965) (11)
Gastric Ulceration in Rats with Experimentally-Induced Polycythemia (1959) (10)
The clinical penetrance of hereditary hemochromatosis (2003) (10)
Prolonged maintenance of 2,3-DPG in liquid blood storage: use of an internal CO2 trap to stabilize pH. (1977) (10)
Blood cell phosphogluconolactonase: assay and properties (1986) (10)
A strategy for cloning the hereditary hemochromatosis gene. (1995) (10)
Glycosylated hemoglobin A2 components. (1980) (10)
Drug-induced anemia. (1972) (10)
Unlocking the mysteries of iron homeostasis and of the anemia of chronic disease: is hepcidin the key? (2003) (10)
Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. (1973) (10)
G-6-PD tripler: a unique variant associated with chronic hemolytic disease. (1970) (10)
Clinical haemochromatosis in HFE mutation carriers (2002) (10)
Letter: Febrile response to cytarabine. (1974) (10)
Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases. (1974) (10)
The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron. (2007) (9)
Tissue distribution of pyrimidine-5'-nucleotidase. (1982) (9)
A new polymorphic site in the G6PD gene (1992) (9)
Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene. (2005) (9)
Three new variants of glucose‐6‐phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G‐6‐PD Lincoln Park, G‐6‐PD arlington heights, and G‐6‐PD West Town (1979) (9)
Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. (2002) (9)
Linkage between a PvuII restriction fragment length polymorphism and G6PD A-202A/376G: evidence for a single origin of the common G6PD A — mutation (1990) (9)
Decay of hexokinase during reticulocyte maturation: is oxidative damage a signal for destruction? (1989) (9)
Alglucerase for Gaucher's disease: dose, costs and benefits. (1994) (9)
Three Gaucher-Disease-Producing Mutations in a Patient with Gaucher Disease: Mechanism and Diagnostic Implications (2001) (9)
TRANSPLANTATION OF T‐LYMPHOCYTE-DEPLETED BONE MARROW BETWEEN HLA‐MISMATCHED INDIVIDUALS (1983) (9)
Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder. (1990) (9)
Two new variants of glucose‐6‐phosphate dehydrogenase associated with hereditary non‐spherocytic hemolytic anemia: G6PD wayne and G6PD huron (1987) (9)
Is red-cell creatine metabolic garbage? (1970) (9)
The Cladribine Trial in Secondary Progressive Multiple Sclerosis: A Reanalysis (2000) (9)
Analysis of 'color PCR' by automatic DNA sequencer. (1989) (9)
Gene transfer in the treatment of hematologic disease. (1990) (9)
Studies on human beta-D-N-acetylhexosaminidases. I. Purification and properties. (1974) (9)
Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations. (2003) (9)
Acetamonophen and G-6-PD deficiency. (1984) (8)
Hematology: Iron Metabolism (1961) (8)
Red cell enzyme deficiencies as non-disease. (1983) (8)
The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family. (1981) (8)
General aspects of erythrocyte physiology and biochemistry. (1971) (8)
CONGENITAL GAUCHER DISEASE WITH NONIMMUNE HYDROPS/ERYTHROBLASTOSIS, INFANTILE ARTERIAL CALCIFICATION, AND NEONATAL HEPATITIS/FIBROSIS. CLINICOPATHOLOGIC REPORT WITH ENZYMATIC AND GENETIC ANALYSIS (2007) (8)
Pyruvate Kinase Deficiency (1978) (8)
Molecular heterogeneity of G-6-PD deficiency in Mexico. (1995) (8)
Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes (1994) (8)
Repacement therapy in Gaucher disease. (1980) (8)
Glucose-6-phosphate dehydrogenase Durham: a de novo mutation associated with chronic hemolytic anemia. (1997) (8)
The treatment of Gaucher disease in countries with limited health care resources (2005) (8)
Thiol transport from human red blood cells. (1995) (8)
Platelet Glycolysis in Platelet Storage II. Levels and Turnover of Metabolic Intermediates (1979) (8)
A common mutant EcoRI restriction endonuclease site in the 5' flanking portion of the human alpha-globin gene. (1981) (8)
Mutation analysis in Gaucher disease. (1992) (8)
Existence of only a single functional pool of adenosine triphosphate in human erythrocytes. (1978) (8)
A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia (2004) (8)
Involvement of the erythroid series in acute myeloid leukemia (1979) (8)
GALACTOKINASE AND CATARACTS (1978) (8)
Newer aspects of some interesting lipid storage diseases: Tay-Sachs and Gaucher's diseases. (1977) (8)
Effect of Thyroid Hormone on the Pathways of Glucose Oxidation in the Intact Rat (1962) (8)
Rebuttal to Ajioka and Kushner (2003) (8)
Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. (2004) (8)
The effect of HFE genotypes on measurements of iron overload. (2002) (7)
Refractory sideroblastic and nonsideroblastic anemia: a review of 27 cases. (1977) (7)
Analytical Review: Mosaicism, Chimerism and Sex-Chromosome Inactivation (1966) (7)
G6PD Capetown, a variant of glucose-6-phosphate dehydrogenase. (1969) (7)
Mosaicism, chimerism and sex-chromosome inactivation. (1966) (7)
Guanosine triphosphatase activity in human erythrocyte membranes. (1980) (7)
Polymorphisms in iron‐responsive binding protein 2 and lack of association with sporadic Parkinson's disease (2002) (7)
Clinical haemochromatosis in HFE mutation carriers. Authors' reply (2002) (7)
Sex- and age-related differences in activity of angiotensin-converting enzyme in serum. (1983) (7)
The genetic basis of human erythrocyte pyridoxal kinase activity variation. (2004) (7)
Physician Attitudes About Sickle Cell Disease and Sickle Cell Trait (1974) (7)
Involvement of the erythroid series in acute myeloid leukemia. (1979) (7)
Activity of 2-chloro-2'-deoxyadenosine in chronic lymphocytic leukemia, hairy cell leukemia, and autoimmune hemolytic anemia. (1989) (7)
Glucose-6-phosphate dehydrogenase and NADPH diaphorase in cattle erythrocytes. (1972) (7)
Penetrance in hereditary hemochromatosis The HFE Cys 282 Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis (2003) (7)
The loss of enzyme activity from erythroid cells during maturation. (1991) (6)
Paroxysmal nocturnal hemoglobinuria: a case report with a negative Ham presumptive test associated with serum properdin deficiency. (1958) (6)
Erythrocyte glutathione S-transferase deficiency and hemolytic anemia (1988) (6)
Characterization of a previously unidentified hemoglobin fraction. (1972) (6)
Heterozygosity for a polymorphism in the promoter region of the UGT1A1 gene. (2001) (6)
A method for the establishment and long-term maintenance of in vitro monocytic cultures with functional and morphological homogeneity. (1982) (6)
Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil (2004) (6)
Characteristics and significance of the reverse glucose-6-phosphate dehydrogenase reaction. (1986) (6)
Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease. (1985) (6)
Pyridoxine administration in sickle cell disease: an unsuccessful attempt to influence the properties of sickle hemoglobin. (1972) (6)
Previously unrecognized transmissible agent in human blood; experimental and clinical studies. (1955) (6)
Hairy cell leukemia: new understanding of biology and treatment. (1993) (6)
Fluorometric analysis of intermediates of the glycolytic and citric acid cycle pathway in human platelets. (1974) (6)
An improved assay and some properties of phosphoglycolate phosphatase. (1980) (6)
SCREENING FOR GALACTOSEMIA AMONG MENTALLY RETARDED PATIENTS. (2008) (6)
Phosphoglycolate phosphatase and 2,3-diphosphoglycerate in red cells of normal and anemic subjects. (1983) (6)
Editorial—Iron Preparations: New and Old (1960) (6)
NATURE'S TRANSPLANT IN FABRY'S DISEASE (1979) (6)
Spectrin extractability in blood storage (1981) (6)
Coexistence of α-Thalassemia and a New Pyruvate Kinase Variant: PK Fukien (1983) (5)
No age-related decrease in frequency of heterozygotes for the HFE C282Y haemochromatosis mutation. (2004) (5)
Human erythrocyte membrane enzymes [letter] (1978) (5)
Galactose Metabolism in the Sea Lion.∗ (1966) (5)
Iron overload in three generations of a family with hemoglobin Olympia. (1984) (5)
Methaemoglobin reduction: studies using galactose as substrate. (2009) (5)
i to I and the eye (2003) (5)
Reduced Diphosphopyridine Nucleotide-dependent Diaphorase in Foetal, Newborn and Adult Cattle (1966) (5)
Instability of the oxy form of sickle hemoglobin and of methemoglobin in isopropanol. (1977) (5)
Test for glucose-6-phosphate dehydrogenase deficiency (1968) (5)
Relative effectiveness of ferro-glycine sulfate and ferrous sulfate. (1962) (5)
Genetic disorders of human red blood cells. (1975) (5)
Bone marrow transplantation beyond treatment of aplasia and neoplasia. (1994) (5)
Limiting role of 6-phosphogluconolactonase in erythrocyte hexose monophosphate pathway metabolism. (1985) (5)
Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies. (1982) (5)
Bone marrow transplantation for sickle cell anemia: summarizing comments. (1991) (5)
Toxicity studies of pyrimethamine (daraprim). (1955) (5)
Cell biology. "Pumping" iron: the proteins. (2004) (5)
A Greeting from the Editor (1995) (5)
Hemolytic anemia. (1999) (5)
Polymorphisms in the human homologue of the drosophila Indy (I'm not dead yet) gene (2003) (5)
The Utilization of Glucose by Normal Glucose-6-phosphate Dehydrogenase and by Glucose-6-phosphate Dehydrogenase Mediterranean∗ (1968) (5)
Two new Gaucher disease mutations (1994) (5)
Natural history of Korean vivax malaria after deliberate inoculation of human volunteers. (1954) (5)
Iron-overload-related disease in HFE hereditary hemochromatosis. (2008) (5)
Helicobacter pylori infection and HFE hemochromatosis. (2006) (5)
Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis. (2002) (5)
Microcytosis in Hodgkin disease associated with unbalanced globin chain synthesis (1986) (5)
Mechanisms of anemia (1962) (5)
Hemoglobin Duarte: (alpha2beta2 62(E6)Ala leads to Pro): a new unstable hemoglobin with increased oxygen affinity. (1974) (5)
G6PD Aures : A rare mutant of G6PD in Saudi Arabia. Molecular and clinical presentations (1996) (5)
Effect of sex hormones on fetal hemoglobin levels. (1969) (5)
An iconoclastic view of conventional wisdoms in hematology. (1979) (5)
Multicentric origin of colon carcinoma. (1984) (5)
Gaucher disease, a paradigm for single gene defects (1995) (5)
The effect of phlebotomy as a treatment of Fabry disease. (1983) (4)
Contamination of commercially available intermediates of the glycolytic pathway (1973) (4)
Hemolytic Anemia due to Other Enzyme Deficiencies (1978) (4)
"Galactose dehydrogenase", "nothing dehydrogenase," and alcohol dehydrogenase: interrelation. (1967) (4)
Inhibition by ATP of Erythrocyte Glucose-6-Phosphate Dehydrogenase Variants 1 (1973) (4)
Gaucher Disease: New Molecular Approaches to Diagnosis and Treatment (1992) (4)
Susumu Ohno, February 1, 1928 - January 13, 2000. (2002) (4)
Characterizing the Global Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency (2007) (4)
Maintenance of low screen filtration pressure in blood stored in a new liquid medium: BAGPM. (1977) (4)
Provisional recommendation (1978) on evaluation of diagnostic kits. Part 2. Guidelines for the evaluation of clinical chemistry kits (Stage 2, Draft1). (1979) (4)
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. (2000) (4)
An exonic polymorphism in the human glucose phosphate isomerase (GPI) gene. (1997) (4)
Prolonged remissions in acute myelocytic leukemia in adults. (1968) (4)
Role of Haemoglobin in the Protection of Reduced Glutathione against Destruction by ‘Oxidant’ Drugs (1965) (4)
Human glucose‐6‐phosphate dehydrogenase variants: a supplementary tabulation (1973) (4)
Cladribine Use in Therapy of Multiple Sclerosis (1997) (4)
Platelet Glycolysis in Platelet Storage (1979) (4)
Characteristics of HFE C282Y Homozygotes Younger than Age 30 Years (2004) (4)
Iron overload after prolonged intramuscular iron therapy. (1989) (4)
The Molecular Biology of Gaucher Disease (1988) (4)
X-INACTIVATION IN FEMALES HETEROZYGOUS FOR G-6-PD VARIANTS1,2 (1986) (4)
Prolongation of the Lag Phase of Irradiated Escherichia coli (1954) (4)
Gaucher disease phenotypes outflanked? (1997) (4)
Falsely normal value in fluorometric transferase screening of galactosemic blood. A cautionary note. (1981) (4)
Susumu Ohno: The father of X-inactivation (1998) (4)
GIucose-6-Phosphate Dehydrogenase Jackson (1974) (3)
Hereditary disorders of erythrocyte metabolism : proceedings of the Symposium held February 13-15, 1967, at the City of Hope Medical Center, Duarte, California (1968) (3)
The Preservation of Red Cell ATP in Adenine Containing Citrate-Dextrose Preservative Mixtures* (1965) (3)
Artificial preservatives for platelets (1993) (3)
Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts. (1979) (3)
Environmental modification of red cell metabolism. (1970) (3)
Glutathione peroxidase activity of inorganic selenium and seleno-dl-cysteine (1975) (3)
The absence of γ-glutamyltransferase in erythrocyte membranes (1987) (3)
Provisional recommendation (1978) on evaluation of diagnostic kits. Part 1. Recommendation for specifications of labelling of clinical laboratory materials (Stage 2, Draft 1). (1979) (3)
Analysis of the Effect of Soluble Transferrin Receptor 1 (sTfR1) on Iron Metabolism in Mice. (2005) (3)
Commentary on Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis by J. Nico P. de Villiers and Maritha J. Kotze (1999) (3)
A New Perspective on the Natural History of Hereditary Hemochromatosis. (2005) (3)
Bone marrow transplantation in acute leukemia. (1982) (3)
Commentary: mutations of transferrin receptor 2 (Trf-2) and iron storage disease. (2001) (3)
Consensus recommendations. Commentary (2007) (3)
Glanzmann's thrombasthenia and reduced glutathione. (1972) (3)
Blood Preservatives for the Glutathione Stability Test (1965) (3)
Hemolytic anemia caused by G-6-PD Carswell, a new variant. (1971) (3)
Gaucher disease: multiple lessons from a single gene disorder (2006) (3)
Autosomal inactivation. (1963) (3)
The “ascorbate” effect on 2,3‐DPG is known to be due to Oxalate (2004) (3)
The use of human blood cells in the study of lipid metabolism (1965) (3)
Response to Moirand et al.—“HFE based re‐evaluation of heterozygous hemochromatosis” (2004) (3)
The effect of oxidized glutathione (GSSG) on human erythrocyte hexokinase activity. (1969) (3)
Editorial: Glutathione deficiency, pyroglutamic acidemia and amino acid transport. (1976) (3)
Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase East Harlem: a new deficient variant. (1977) (3)
Large scale purification of glucocerebrosidase from human placentas. (1980) (3)
Glycolate kinase activity in human red cells. (1985) (3)
Iron Content of Hæmoglobin in Iron Deficiency (1958) (3)
Commentary: the natural history of Gaucher disease. (1998) (3)
Subject Index, Vol. 86, 1991 (1991) (2)
Bone marrow transplantation for the treatment of severe aplastic anaemia. (1983) (2)
Mechanism of improved maintenance of 2,3-diphosphoglycerate in stored blood by the xanthone compound 2-(2-hydroxyethoxy)-6-(1-H-tetrazole-5-yl)xanthen-9-one (BW A440C). (1988) (2)
Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes. (2006) (2)
Hemochromatosis Population Screening (2000) (2)
The Red Cell (1978) (2)
Hemochromatosis: Evidence for multiple hemochromatosis genes (2000) (2)
Relationship between human alpha-galactosidase isozymes. (1972) (2)
Increased susceptibility of riboflavin deficient rats to galactose cataract (1970) (2)
Autocannibalism: the etiology of nerve-resection anemia. (1960) (2)
Hemoglobin Pasadena,alpha 2 beta 275(E19)Leu leads to Arg. Identification by high performance liquid chromatography of a new unstable variant with increased oxygen affinity. (1980) (2)
VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS (1964) (2)
Marrow transplantation and acute nonlymphocytic leukemia. (1980) (2)
Erythrocyte fragility and chronic intermittent pigmenturia in a dog. (1995) (2)
Screening strategies in c282y‐linked haemochromatosis (2003) (2)
Human erythrocyte membrane enzymes. (1978) (2)
BLOOD FINDINGS IN NORMAL WOMEN (1958) (2)
DNA-based diagnosis of red cell enzymopathies: how we threw out the baby with the bathwater. (2001) (2)
Gaucher disease. (1995) (2)
A Note from the Editors and Publishers (1983) (2)
Gaucher disease. (1999) (2)
Evidence for Increased Red Cell Turnover in Unexplained Anemia in Patients Over 70 Years of Age (2008) (2)
Cataracts and galactokinase deficiency. (1972) (2)
Review Gaucher disease asaparadigm ofcurrent issues regarding single genemutations ofhumans (1993) (2)
Absence of cross-reactive antigen in Fabry's disease. (1973) (2)
Hematologically important mutations: glucose-6-phosphate dehydrogenase. (2002) (2)
Gene therapy. (1999) (2)
The effect of 2,3-DPG on red cell enzymes (1974) (2)
Redesigned apparatus for anaerobic measurement of blood pH at low temperatures. (1975) (2)
Globin-methionine complexes formed during labelling studies. (2008) (2)
Preoperative management of blood loss anemia. (1958) (2)
Editorial: Environmental Modification of Red Cell Metabolism (1970) (2)
Minireview: the molecular biology of hematologically significant enzyme defects. Molecular biology of enzyme defects. (1988) (2)
Where does phosphoglycolate come from in red cells? (1985) (1)
Coexistence of alpha-thalassemia and a new pyruvate kinase variant: PK Fukien. (1983) (1)
Clinical aspects of enzymatic deficiencies of erythrocytes and their detection. (1968) (1)
Effectiveness of ferroglycine sulfate and ferrous sulfate. (1963) (1)
Drug-induced haemolytic anaemias and the mechanism and significance of Heinz body formation in red blood cells. (1962) (1)
Iron content of haemoglobin in iron deficiency. (1958) (1)
G-6-PD AS A MARKER FOR TUMORS1,2 (1986) (1)
Hemojuvelin Mutations in Whites, Blacks and Asians with Primary Iron Overload and in Control Subjects. (2004) (1)
Blood cells as markers for metabolic disorders (1985) (1)
Effect of l-dopa administration on rabbit lens and erythrocytes (1971) (1)
Response: Screening for treatable disease is better than just screening for hemochromatosis (2008) (1)
Investigation of the Iron Responsive Elements of the Hepcidin Promoter by In Vivo Imaging of Mice. (2006) (1)
Hallmarks of hypochromic anemias. (1968) (1)
Abnormalities of glycolysis (HMP shunt). (1968) (1)
Hemoglobin Duarte: (a2fl?2?"#{176}?0):A New Unstable Hemoglobin With Increased Oxygen Affinity (1974) (1)
Comment on "Frequency of elevated serum transferrin saturation in elderly subjects". (2001) (1)
Contempo '81. Hematology. (1981) (1)
Miglustat: A Viewpoint (2003) (1)
various ethnic groups Glucose-6 phosphate dehydrogenase mutations and haplotypes in (2011) (1)
Treatment of Multiple Sclerosis with Cladribine (1996) (1)
Ferritin in cultured fibroblasts from patients with idiopathic hemochromatosis. (1981) (1)
BCMD: The First Year. (1996) (1)
DRUG-INDUCED HEMOLYTIC ANEMIA AND NON-SPHEROCYTIC HEMOLYTIC ANEMIA1,2 (1986) (1)
The foregoing letter was sent to Dr. Beutler, who replied as follows (2009) (1)
Clinical, genetic, and biochemical features of G‐6PDWest Virginia (1996) (1)
Miglustat: A Viewpoint by Ernest Beutler (2003) (1)
Enzyme replacement therapy for Gaucher's disease. (1997) (1)
Fabry's disease: structural or regulatory mutation? (1971) (1)
Response of the fever of Hodgkin's disease to nitrogen mustard (NSC-762): an evaluation of its significance. (1969) (1)
The Woronets trait: a new familial erythrocyte anomaly. (1980) (1)
[Sea-blue histiocyte syndrome: type B Niemann-Pick disease]. (1986) (1)
A vision of the future for Ph.D. graduates in science: A commencement address (2008) (1)
Effect of temperature on red cell ATP. (1991) (1)
The Effect of Agitation on In Vitro Metabolism of Erythrocytes Stored in CPD‐Adenine (2003) (1)
Problems in the diagnosis of the hemoglobinopathies and of polycythemia. (1991) (1)
Pivotal Role of Poly(ADP-Ribose) Polymerase Activation in the Pathogenesis of Immunodeficiency and in the Therapy of Chronic Lymphocytic Leukemia (1989) (1)
The absence of gamma-glutamyltransferase in erythrocyte membranes. (1987) (1)
Auxiliary Pathways of Galactose Metabolism (2003) (1)
Response: Correlation between Gaucher disease clinical severity and surrogate markers is weak (2007) (1)
Hepatosplenomegaly, Abdominal Pain, Anemia, and Bone Lesions (1973) (1)
Alglucerase for Gaucher’s Disease (1994) (1)
Case 20-2003: Gaucher's disease. (2004) (1)
Glucose-6-phosphate dehydrogenase Jackson. A new variant associated with hemolytic anemia. (1974) (1)
Studies in Tay-Sachs and Sandhoff's diseases. Immunologic and structural properties of hexosaminidase A and hexosaminidase B. (1973) (1)
Red cell metabolism and hemolysis. (1987) (1)
Galactosemia in a 24-year-old man; detection by enzyme studies. (1968) (1)
Bone marrow transplantation. (1989) (0)
Association of SMAD3/4, COUP-Tf, HNF4α, C/EBPα, GATA2 and STAT5 to the Hamp1 Promoter (2008) (0)
Bovine bile derivative treatment for cancer-a critical evaluation. (1966) (0)
Contents, Vol. 27, 1962 (1962) (0)
Characterization of IL-6 Responsive Elements in Hepcidin Promoters at the Molecular Level: Lessons from the Two Closely Related Promoter Sequences, Murine Hepc1 and Hepc2. (2006) (0)
AcommonmutantEcoRIrestriction endonuclease site inthe5' flanking portion ofthehumana-globin gene (1981) (0)
A novel intrachromosomal rearrangement in the beta-globin gene found in an African-American family. (1995) (0)
hemoglobin concentration? the lower limit of normal of the blood is (2009) (0)
responsiveness the hepcidin promoter are critical for BMP, SMAD1, and HJV Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of (2013) (0)
Ethnic Variation in Red Cell Glutathione (2005) (0)
Presentation of the George M. Kober Medal to E. Donnall Thomas. (1992) (0)
Provisional Recommendation (1978) on Evaluation of Diagnostic Kits1 (1979) (0)
Clinical, genetic, and biochemical features of G-6PD(West Virginia). (1996) (0)
Annual review of nutrition. Volume 6. (1986) (0)
Index rerum ad Vol. 27 (1962) (0)
FROM PROTEIN STRUCTURE AND FUNCTION TO MOLECULAR PATHOLOGY (1995) (0)
Examination of ALAS2, ABC7, Rag1, and IL6 Genes as Candidate Modifiers of Iron Overload in HFE C282Y Homozygotes with Severe Iron Overload. (2005) (0)
A New High-Affinity Hemoglobin (2017) (0)
The Female G6PD Deficient Heterozygote: an Unrecognized Risk for Neonatal Hyperbilirubinemia • 1038 (1998) (0)
A New Exon 9 Glucose-6-phosphate Dehydrogenase Mutation (G6PD “Rehovot (2001) (0)
Chronic leukocytosis. (2008) (0)
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A (-) ( DNA sequencing / mutation / polymerase chain reaction / alternative splicing ) (0)
Hemoglobin Great Lakes (beta 68 [E12] leucine replaced by histidine): a new high-affinity hemoglobin. (1981) (0)
Screening for glucose-6-phosphate dehydrogenase deficiency. (1973) (0)
Fever and chloramphenicol in leukemic patients. (1980) (0)
Deficiency in Dogs With Hyperventilation-Induced Hemolysis: Increased In Vitro and In Vivo Alkaline Fragility of Erythrocytes (1985) (0)
About Gaucher disease. (1989) (0)
United States Patent ( 19 ) Kamijo et al . ( 54 ) PROCESS AND APPARATUS FOR MANUFACTURING FINE POWDER (2017) (0)
Referees for volume 30 (1992) (0)
The Role of α-Thalassemia and Iron Deficiency in the Difference between Hemoglobin Levels of African-Americans (AA) and Whites. (2004) (0)
Comments on an optimized assay for red cell pyruvate kidney deficiency. (1981) (0)
HFE based re-evaluation of heterozygous hemochromatosis by Eutler E et al. (2004) (0)
hereditary nonspherocytic hemolytic anemia mutations (118G>A, 190G>A, and GAC deletion) associated with Red cell adenylate kinase deficiency: molecular study of 3 new (2013) (0)
Substituted use for the treatment of multiple sclerosis adeniinijohdannaisten (1994) (0)
Studies on human beta-D-N-acetylhexosaminidases. II. Kinetic and structural properties. (1974) (0)
References Establishing Normal Limits for Blood Hemoglobin Concentration (0)
A Novel Intrachromosomal Rearrangement in the β-Globin Gene Fd in An African-American Family (1995) (0)
Iron deficiency anemias. Identification and management. (1962) (0)
Three Kinships with ALAS2 P520L Mutations, Two in Association with Severe Iron Overload, and One with Sideroblastic Anemia and Severe Iron Overload. (2005) (0)
Sensitivity to hemolytic drugs: an inborn error of metabolism of the red cell. (1961) (0)
Contents, Vol. 21, 1959 (1959) (0)
Treatment With Allogeneic Bone Marrow Transplantation (2016) (0)
Introduction: Hemochromatosis population screening. (2000) (0)
Iron Overload and Hepatic Fibrosis: In Response (2004) (0)
THE NATURAL HISTORY OF GAUCHER DISEASE (1998) (0)
Contents, Vol. 86, 1991 (1991) (0)
Recent Advances in Haematology, Volume 4 Edited by A.V. Hoffbrand. Churchill Livingstone, Edinburgh, 1985, 399 pages, £28.00 (1986) (0)
Do Hemolysis and Jaundice Associated with G6PD Deficiency Commence in Utero? (1999) (0)
A process for the production of a finely divided soyabohnenproduktes (1995) (0)
Why use a programmable controller for mold temperatures (1987) (0)
Introduction: Molecular and Clinical Aspects of Human Iron Metabolism☆ (2002) (0)
Falsely Normal Value in Fluorometric Transferase Screening of Galactosemic Blood. A Cautionary Note (1982) (0)
Glucocerebrosidase (Acid β-Gluosidase) (2002) (0)
Iron Overload and Hepatic Fibrosis (2004) (0)
Register autorum ad Vol. 21 (1959) (0)
Subject Index Vol. 116, 2006 (2006) (0)
Index autorum ad Vol. 27 (1962) (0)
Sideroblastic anemia. Erythroid depression following transfusion. (1968) (0)
Incorporation of glucocerebrosidase into Gaucher's disease (2016) (0)
BORTEZOMIB : PROTEASOME INHIBITION AS AN EFFECTIVE ANTICANCER THERAPY (2013) (0)
TRANSFORMING GROWTH FACTOR-b INHIBITS LYMPHOKINE ACTIVATED KILLER CYTOTOXICITY OF BONE MARROW CELLS (2001) (0)
Procede de preparation de produit de soja finement divise (1995) (0)
Chapter 16 – Hemochromatosis (2010) (0)
Referees for volume 30 (2004) (0)
DIAGNOSIS OF G.-6-P.D. DEFICIENCY (1975) (0)
The Effect ofCarbon Monoxide on Red Cell Life Span in Sickle Cell Disease (2005) (0)
Gaucher disease Low-dose therapy trumps high-dose therapy again in the treatment of (2013) (0)
utathione Dependent Protection Against Oxidative Damage of the Human Red Cell Membrane (2005) (0)
Iron preparations: new and old. (1960) (0)
Gaucher Disease, Molecular Biology of (2006) (0)
erythrocytes induced hemolysis: increased in vitro and in vivo alkaline fragility of Inherited phosphofructokinase deficiency in dogs with hyperventilation- (2011) (0)
Starch gel electrophoresis of erythrocyte hypoxanthine-guanine phosphoribosyl transferase and adenine phosphoribosyl transferase: a population survey. (1978) (0)
Gaucher disease. (1988) (0)
Red-cell suspensions. (1979) (0)
Polymorphisms in African-Americans (2006) (0)
Simple rapid radiometric assay for pyrimidine-5'-nucleotidase. [/sup 14/C tracer technique] (1977) (0)
Contents Vol. 116, 2006 (2006) (0)
Formation and cleavage of mixed disulfide of hemoglobin-glutathione in intact erythrocytes. (1974) (0)
Contents, Vol. 80, 1988 (1988) (0)
Opening Remarks (1991) (0)
Process for the preparation of soy product finely divided. (1995) (0)
In Memoriam Professor Shiro Miwa (2006) (0)
Thanks to Reviewers2005 (2005) (0)
Hematopoietic Cell Transplantation in the 21st Century (2007) (0)
赤血球におけるグルコース代謝酵素に対する2,3-ジホスホグリセン酸の影響 (1971) (0)
Contents Vol. 118, 2007 (2007) (0)
RED CELL ATP DETERMINATIONS. (1965) (0)
Seminars in Fetal & Neonatal Medicine (2010) (0)
Membrane and Enzyme Abnormalities of the Erythrocyte (2009) (0)
Transcriptional Regulation of Hepcidin by Iron. (2007) (0)
The Maintenance of ATP in Maltose and Galactose Containing Preservatives is Due to Endogenous Blood Sugar (2009) (0)
The effect of 6‐phosphogluconate on the activity of glutathione‐reductase in membrane‐free hemolysates of normal human red blood cells (1975) (0)
Metastatic carcinomatous cirrhosis and hepatic hemosiderosis. (2009) (0)
Gaucher Disease as a Model for an Orphan Disease: Medical Aspects (2006) (0)
erythrocytes Studies on gamma-glutamyl transpeptidase in human and rabbit (2011) (0)
Iron enzymes in iorn deficiency (1960) (0)
Utility of Red Cell Mass Determination: Dr. Beutler replies (1991) (0)
Subject Index Vol. 112, 2004 (2004) (0)
Inhibition of Hamp1 Expression by TMPRSS6, GDF15, PIAS4 and SMAD6 Utilize Several Target Sites in the Hamp1 Promoter (2008) (0)
Contents, Vol. 92, 1994 (1994) (0)
GaucherDisease: GeneFrequencies intheAshkenazi Jewish Population (1993) (0)
G6PD Mount Sinai: A Variant Characterized by Dual Mutations at ew Severe Hemolytic ucleotides 376G and 1159T ( (1998) (0)
Invited Article- The treatment of Gaucher disease in countries withlimited health care resources (2005) (0)
Erratum (2006) (0)
9. Subunit structure of the hexosaminidase isozymes (2001) (0)
Register rerum ad Vol. 21 (1959) (0)
Review of Reference Manager (1985) (0)
A simple and rapid method for determination of G gamma:A gamma globin chain synthetic ratio. (1981) (0)
Subject Index, Vol. 80, 1988 (1988) (0)
Gaucher disease: an international collaborative study of 33 patients Home treatment with intravenous enzyme replacement therapy for (2011) (0)
effective approach Screening for hemochromatosis by measuring ferritin levels: a more (2013) (0)
Miglustat: profile report (2012) (0)
ANNUAL REVIEW OF NUTRITION.-- V. 5. 1985 (2017) (0)
Iron overload and hepatic fibrosis. Author's reply (2004) (0)
The Preservation of Human Blood. (1972) (0)
International Forum (2009) (0)
Red Cells Red Cell Membrane Disorders (2005) (0)
Subject Index, Vol. 92, 1994 (1994) (0)
Subject Index Vol. 118, 2007 (2007) (0)
The Effect of External ADP on Red Cell Nucleotide Levels 1 (1979) (0)
The Sex Chromatin (1966) (0)
The quest for the normal hemoglobin concentration. Authors' reply (2006) (0)
LOCATION OF POINT MUTATIONS IN G 6 PD DEFICIENCY (2000) (0)
Letter: Diagnosis of G.-6 P.D. deficiency. (1975) (0)
Contents Vol. 112, 2004 (2004) (0)
Blood Preservation Study. (1983) (0)
dards based on population norms, as we do with most other clinical laboratory measurements. (2016) (0)
Future Trends Enzyme replacement therapy (1981) (0)
Hybridization studies in the further characterization of erythrocyte glucose-6-phosphate dehydrogenase (1966) (0)
ENZYME REPLACEMENT THERAPY1 (1979) (0)

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