William Nyhan | Academic Influence

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William Nyhan

Philosophy

#2939

World Rank

#4872

Historical Rank

#987

USA Rank

Logic

#909

World Rank

#1479

Historical Rank

#313

USA Rank

philosophy Degrees

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Philosophy

William Nyhan's Degrees

Doctorate Medicine Harvard University
PhD Biomedical Sciences Stanford University

Why Is William Nyhan Influential?

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According to Wikipedia, William Leo Nyhan is an American physician best known as the co-discoverer of Lesch–Nyhan syndrome. Nyhan currently serves as professor of pediatrics at UC San Diego School of Medicine in La Jolla, California. He has held positions at Johns Hopkins School of Medicine and the University of Miami Leonard M. Miller School of Medicine and has served on a number of advisory committees, pediatric advisory boards, and research foundation boards.

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William Nyhan's Published Works

Number of citations in a given year to any of this author's works

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

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. (1964) (1336)
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. (2013) (429)
Disorders of purine and pyrimidine metabolism. (2005) (286)
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. (1978) (234)
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. (2000) (233)
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. (1961) (225)
Self-injurious behavior: gene-brain-behavior relationships. (2001) (225)
Delineation of the motor disorder of Lesch-Nyhan disease. (2006) (224)
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. (1989) (194)
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. (1970) (193)
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. (1979) (187)
X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations (1968) (176)
Glutaric aciduria Type II. (1980) (174)
Autosomal dominant striatonigral degeneration (1976) (169)
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome (1999) (166)
Physiology and pathophysiology of organic acids in cerebrospinal fluid (1993) (156)
MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY (1979) (150)
Attenuated variants of Lesch-Nyhan disease (2010) (132)
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. (1981) (127)
The uptake of a variety of amino acids into nuclear proteins of tumors and other tissues. (1959) (117)
Genetics of an X-Linked Disorder of Uric Acid Metabolism and Cerebral Function (1967) (117)
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. (1999) (114)
Behavioral Phenotypes in Organic Genetic Disease: Presidential Address to the Society for Pediatric Research, May 1, 1971 (1972) (114)
Propionic acidemia: a clinical update. (1981) (113)
Inheritable biotin-treatable disorders and associated phenomena. (1986) (110)
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. (1983) (109)
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. (2014) (107)
Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients (1982) (107)
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. (1977) (107)
Transient hyperammonemia of the preterm infant. (1978) (106)
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. (1972) (105)
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. (1976) (104)
The occurrence of gamma-aminobutyric acid in human tissues other than brain. (1966) (103)
Agenesis of the lung. Report of four patients with unusual anomalies. (1985) (100)
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. (2014) (99)
Autosomal dominant striatonigral degeneration: a clinical, pathological, and biochemical study of a new genetic disorder. (1976) (96)
Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation (1982) (94)
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. (1980) (93)
Structural Features of the Phosphoribosyl-Transferases and Their Relationship to the Human Deficiency Disorders of Purine and Pyrimidine Metabolis (1981) (92)
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism (1997) (92)
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. (1990) (91)
Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria (2011) (90)
Amino acid metabolism and genetic variation (1967) (90)
A new disorder of purine metabolism with behavioral manifestations. (1969) (90)
Atlas of metabolic diseases (1998) (88)
Neurologic nonmetabolic presentation of propionic acidemia. (1999) (86)
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver (2002) (86)
PRECOCIOUS PUBERTY IN A BOY WITH HEPATOMA AND CIRCULATING GONADOTROPIN. (1963) (85)
Short‐chain organic acidemia and Reye's syndrome (1975) (84)
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. (1989) (84)
Behavioral aspects of Lesch-Nyhan disease and its variants. (2005) (83)
Septicemia of the newborn. (1958) (82)
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients (1988) (82)
Developmental disorder associated with increased cellular nucleotidase activity. (1997) (81)
Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. (1974) (81)
Toxicity of drugs in the neonatal period. (1961) (80)
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. (1985) (80)
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia. (1972) (80)
Emergency management of inherited metabolic diseases (2002) (80)
Serotonergic approaches to the modification of behavior in the Lesch-Nyhan Syndrome. (1980) (77)
Clinical features of the Lesch-Nyhan syndrome. (1972) (76)
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family. (1970) (76)
The natural history of Machado-Joseph disease: An analysis of 138 personally examined cases (1984) (75)
Hypoxanthine-guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activity (1981) (74)
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. (1983) (74)
Self-mutilative behavior as a feature of the de Lange syndrome. (1971) (74)
Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. (1981) (74)
A familial disorder of uric acid metabolism and central nervous system function. II (1965) (72)
Propionic acidemia in patients with ketotic hyperglycinemia. (1971) (70)
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. (1978) (68)
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency (1999) (68)
D‐2‐Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? (1999) (68)
Self-injurious behavior produced in rats by daily caffeine and continuous amphetamine (1982) (67)
A Behavioral Phenotype in the de Lange Syndrome (1976) (67)
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. (2006) (67)
Observations on the coexistence of methylmalonic acidemia and glycinemia. (1969) (66)
Domino liver transplantation in maple syrup urine disease (2006) (66)
Haemophilus influenzae infections. (1972) (65)
Assay of hypoxanthine-guanine and adenine phosphoribosyl transferases: A simple screening test for the Lesch-Nyhan syndrome and related disorders of purine metabolism☆ (1969) (64)
Neurological manifestations of organic acid disorders (2005) (63)
Propionyl-CoA Carboxylase Deficiency in a Patient with Biotin-responsive 3-Methylcrotonylglycinuria (1977) (62)
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. (1990) (62)
Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia. (1986) (62)
Pharmacologic control of pemoline induced self-injurious behavior in rats (1982) (62)
Idiopathic hyperglycinemia: a new disorder of amino acid metabolism. II. The concentrations of other amino acids in the plasma and their modification by the administration of leucine. (1961) (62)
Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. (1982) (61)
PRENATAL TREATMENT OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY (1982) (61)
Sephadex G-10 adsorption chromatography of purines and related compounds. (1968) (60)
Metabolism of Glycine in the Nonketotic Form of Hyperglycinemia (1968) (60)
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. (1987) (59)
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. (1973) (59)
Neuropathology of Propionic Acidemia: A Report of Two Patients With Basal Ganglia Lesions (1995) (58)
Abnormalities in amino acid metabolism in clinical medicine (1984) (57)
The Spectrum of Mutations Causing HPRT Deficiency: An Update (2004) (57)
Chronic treatment of mitochondrial disease patients with dichloroacetate. (2004) (56)
D-2-Hydroxyglutaric Aciduria (1995) (56)
Self-mutilative behavior in the Cornelia de Lange syndrome. (1971) (56)
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. (1981) (55)
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. (1973) (54)
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. (2008) (54)
Systemic infection with Hemophilus influenzae in very young infants. (1967) (53)
NTBC and alkaptonuria. (1998) (53)
Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. (1980) (52)
Urinary-tract stones resulting from the excretion of oxypurinol. (1975) (52)
Inherited metabolic diseases : a clinical approach (2009) (52)
The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. (1986) (51)
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate (2001) (51)
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. (1992) (51)
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. (1986) (51)
Inborn errors of biotin metabolism. (1987) (51)
Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia (2002) (51)
Excretion of propionylglycine in propionic acidaemia. (1972) (50)
TWO FORMS OF CUTIS LAXA PRESENTING IN THE NEWBORN PERIOD (1978) (50)
Dopamine function in Lesch-Nyhan disease. (2000) (49)
Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome (1979) (49)
Isovaleric Acidemia Presenting with Altered Metabolism of Glycine (1971) (49)
Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. (1978) (49)
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. (2005) (49)
Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome. (1978) (48)
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (2001) (47)
l-2-Hydroxyglutaric aciduria: Neuropathological correlations and first report of severe neurodegenerative disease and neonatal death (1996) (46)
Nonketotic Hyperglycinemia: Two Patients with Primary Defects of P-Protein and T-Protein, Respectively, in the Glycine Cleavage System (1983) (46)
Stool frequency of normal infants in the first week of life. (1952) (45)
Excretion of Hypoxanthine and Xanthine in a Genetic Disease of Purine Metabolism (1967) (45)
Syndrome of Cutis Laxa Ligamentous Laxity and Delayed Development (1983) (44)
Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. (1981) (43)
Effects of 2'-deoxycoformycin on the metabolism of purines and the survival of malignant cells in a patient with T-cell leukemia. (1981) (43)
The Clinical Findings in a Patient with Nonketotic Hyperglycinemia (1968) (41)
Hyperuricemia. (2020) (41)
Treatment of the acute crisis in maple syrup urine disease. (1998) (39)
Neonatal citrullinemia: Treatment with keto-analogues of essential amino acids (1977) (38)
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. (2015) (38)
The spectrum of HPRT deficiency: an update. (1989) (37)
Reexpression of the rat hypoxanthine phosphoribosyltransferase gene in rat-human hybrids. (1973) (37)
An unexpected affected female patient in a classical Lesch-Nyhan family. (2000) (37)
Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. (1973) (37)
New approaches to understanding Lesch-Nyhan disease. (1996) (36)
Vincristine, prednisone and L‐asparaginase in the induction of remission in children with acute lymphoblastic leukemia following relapse (1978) (36)
New metabolites in isovaleric acidemia. (1981) (36)
The Oxidation of Glycine and Propionic Acid in Propionic Acidemia with Ketotic Hyperglycinemia (1972) (35)
Excretion of tiglyglycine in propionic acidemia (1972) (34)
Oxidation of [U-14C]Succinic Semialdehyde in Cultured Human Lymphoblasts: Measurement of Residual Succinic Semialdehyde Dehydrogenase Activity in 11 Patients with 4-Hydroxybutyric Aciduria (1988) (34)
Nucleotide Synthesis via Salvage Pathway (2005) (34)
3-Hydroxyisobutyric Aciduria: An Inborn Error of Valine Metabolism (1991) (34)
Fatal initial adult-onset presentation of urea cycle defect. (2007) (33)
Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia (1984) (33)
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. (1968) (33)
Succinic semialdehyde dehydrogenase deficiency. (1984) (32)
Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts. (1973) (32)
Hemophilus influenzae type b pneumonia. (1955) (32)
FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA. (1964) (32)
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. (1990) (32)
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. (2003) (32)
Cerebral gigantism: concentrations of amino acids in plasma and muscle. (1970) (32)
HYPERTHYROIDISM IN A PATIENT WITH A PITUITARY ADENOMA. (1964) (32)
A new quantitative assay for glycosaminoglycans. (1992) (31)
Joseph disease and Huntington disease (1981) (31)
Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject. (1970) (31)
Diagnostic recognition of genetic disease (1987) (31)
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. (1975) (30)
3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Report of five new patients (1988) (30)
The Sjogren-Larsson syndrome. (1968) (30)
Proximal renal tubular acidosis in methylmalonic acidemia. (1985) (30)
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency (1999) (30)
Fatal pulmonary involvement in dermatomyositis. (1975) (30)
Acute hematogenous osteomyelitis. (1956) (29)
Propionic acidemia with severe hyperammonemia and defective glycine metabolism. (1978) (29)
CARNITINE REDUCES FASTING KETOGENESIS IN PATIENTS WITH DISORDERS OF PROPIONATE METABOLISM (1986) (29)
Variable expression of HPRT deficiency in 5 members of a family with the same mutation. (2008) (29)
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population. (1993) (29)
A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs. (1971) (29)
The Prognosis of Subdural Effusions Complicating Pyogenic Meningitis (1960) (28)
Acquired Fanconi syndromefollowing degraded tetracycline (1965) (28)
Deficiency of Carnitine Palmitoyltransferase I (1989) (28)
Prenatal diagnosis of propionic acidemia. (1979) (28)
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. (1991) (28)
Joseph disease (1979) (27)
Clonidine potentiates drug induced self-injurious behavior in rats (1983) (27)
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. (1999) (27)
Lipid patterns in Niemann-Pick disease. (1961) (26)
A syndrome of polydactyly‐syndactyly and triphalangeal thumbs in three generations (1974) (26)
Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. (1968) (26)
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. (1976) (26)
Inherited hyperuricemic disorders. (2005) (26)
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. (1989) (26)
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. (1986) (26)
Wolman disease/cholesteryl ester storage disease (2005) (26)
HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE. (1964) (26)
Diabetic ketosis and acidosis: The continous infusion of low doses of insulin (1975) (25)
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. (1994) (25)
Multiple carboxylase deficiency. (1988) (25)
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. (1994) (25)
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme. (1972) (25)
Isovaleric acidemia: identification of isovalerate, isovalerylglycine, and 3-hydroxyisovalerate in urine of a patient previously reported as having butyric and hexanoic acidemia. (1973) (25)
Concentrations of amino acids in plasma and muscle. Relationship to androgen metabolism during growth and development in the male. (1966) (24)
LESCH-Nyhan Disease (2005) (24)
Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. (1993) (24)
Lesch-Nyhan syndrome. Summary of clinical features. (1968) (24)
Complications of meningitis. (1963) (24)
Activity of biotin‐dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis (1986) (24)
Salt--a dangerous "antidote". (1971) (24)
Idiopathic hyperglycinuria. III. Report of a second case. (1963) (24)
Peripheral nerve in type III glycogenosis: Selective involvement of unmyelinated fiber schwann cells (1985) (24)
The Börjeson-Forssman-Lehmann syndrome. (1983) (23)
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency (1991) (23)
Abnormal Pyruvate and α-Ketoglutarate Dehydrogenase Complexes in a Patient with Lactic Acidemia (1979) (23)
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. (2015) (22)
Concentrations of uric acid in the serum of neonatal infants and their mothers. (1970) (22)
Myopathy in an infant with a fatal peroxisomal disorder. (1986) (22)
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. (1987) (22)
Metabolic patterns for L-glutamate-U-C14 in tissues of tumor-bearing rats. (1958) (22)
Organic acids in cerebrospinal fluid and plasma of patients withl-2-hydroxyglutaric aciduria (1995) (22)
Sensitive Assay for Mitochondrial DNA Polymerase γ (1999) (21)
3-Hydroxy-3-methylglutaric aciduria. (1984) (21)
RESPONSE OF THE FETUS AND NEWBORN TO DRUGS. (1965) (21)
Lesch-Nyhan Disease (2008) (21)
THE LESCH‐NYHAN SYNDROME (1978) (21)
The role of methionine in ethylmalonic encephalopathy with petechiae. (2004) (21)
Bone marrow transplantation in Lesch-Nyhan disease. (1986) (21)
Anomalous left pulmonary venous drainage to the inferior vena cava and through the pericardiophrenic vein to the innominate vein:left-sided scimitar syndrome. (1981) (21)
Heritable disorders of amino acid metabolism: patterns of clinical expression and genetic variation (1974) (21)
Hawkinsinuria in two families. (1992) (21)
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. (1984) (21)
Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes. (1975) (21)
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism (1984) (21)
Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. (2010) (21)
Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients (2013) (20)
Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine (1985) (20)
Biochemical correlates of the differential sensitivity of subtypes of human leukemia to deoxyadenosine and deoxycoformycin (1982) (20)
Quantitation of oxypurines and allopurinol metabolites in biological fluids by cation-exchange chromatography. (1969) (20)
3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography. (1982) (20)
Duplication of 16q and deletion of 15q. (1989) (20)
Pyruvate carboxylase deficiency--insights from liver transplantation. (2002) (20)
Long-term follow-up of four patients affected by HHH syndrome. (2012) (19)
An improved procedure for detection of hypoxanthine--guanine phosphoribosyl transferase heterozygotes. (1982) (19)
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. (1975) (19)
Further studies of the enzyme composition of mutant cells in X-linked uric aciduria. (1972) (19)
Metabolism of 1-13C-Propionate In Vivo in Patients with Disorders of Propionate Metabolism (1991) (19)
Theophylline: Induction of self-biting in rabbits (1970) (19)
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers. (2010) (19)
Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA. (2012) (18)
Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. (1994) (18)
Studies on the mechanism of adsorption of purines in sephadex G-10 chromatography. (1971) (18)
Effect of Lipoic Acid in a Patient with Defective Activity of Pyruvate Dehydrogenase, 2-Oxoglutarate Dehydrogenase, and Branched- Chain Keto Acid Dehydrogenase (1990) (18)
Symptomatic hyponatremia in acute infections of the central nervous system. (1956) (18)
A simple screening method for detecting isovalerylglycine in urine patients with isovaleric acidemia. (1970) (18)
Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. (1987) (18)
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation (2001) (17)
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. (2015) (17)
Biotin Holocarboxylase Synthetase Deficiency a (1985) (17)
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid (2004) (17)
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. (1990) (17)
Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy (1996) (17)
Answer to criticism of Morton and Lalouel. (1977) (17)
Binding of thalidomide by macromolecules in the fetal and maternal rat. (1968) (17)
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. (1989) (17)
Demonstration of 4-Aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts (1985) (17)
Abnormalities of fatty acid oxidation. (1988) (16)
Malonic aciduria (1994) (16)
Human GMP synthetase. (1984) (16)
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis (1971) (16)
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (2001) (16)
Human transmissible spongiform encephalopathies. (1998) (16)
Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes. (1974) (16)
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1992) (16)
Inhibition of uptake of Larginine-U-C14 into nuclear proteins by 5-bis (2-chloroethyl) aminouracil. (1959) (16)
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid. (1984) (16)
Congenital cutis laxa and osteoporosis. (1983) (16)
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia (1989) (15)
Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease (2017) (15)
A disorder of uric acid metabolism and cerebral function in childhood. (1965) (15)
Inborn errors of GABA metabolism (1986) (15)
Behavioral aspects of Lesch–Nyhan disease and its variants (2005) (15)
An oculocerebral syndrome with aminoaciduria and keratosis follicularis. (1969) (15)
A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase. (1978) (15)
Syndrome of unilateral ectromelia, psoriasis and central nervous system anomalies. (1971) (15)
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. (1984) (15)
Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β-alanine,l-valine andl-alloisoleucine metabolism? (1993) (15)
An evaluation of protein requirements in methylmalonic acidaemia (1985) (14)
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. (2000) (14)
Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members (2012) (14)
Variability of the Holt-Oram syndrome in Saudi individuals. (1988) (14)
Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase. (1986) (14)
The Occurrence of γ-Aminobutyric Acid in Human Tissues Other than Brain (1966) (14)
Renal Pathogenesis of Familial Hyperuricemia: Studies in Two Kindreds (1981) (14)
In vitro and in vivo effect of deoxycoformycin in human T cell leukemia. (1979) (14)
A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. (2016) (14)
Osteodysplastic variant of primordial dwarfism. (1991) (14)
Novel Mutations in the Human HPRT Gene (2011) (14)
Acute iron poisoning in children. (1976) (14)
Cerebral metabolic change after treatment in biotinidase deficiency (1993) (14)
Multiple carboxylase deficiency due to deficiency of biotinidase. (1986) (13)
Metabolism of Branched-Chain Amino Acids in Fibroblasts from Patients with Maple Syrup Urine Disease and Other Abnormalities of Branched-Chain Ketoacid Dehydrogenase Activity (1986) (13)
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. (1983) (13)
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. (1970) (13)
Treatment of Lesch-Nyhan syndrome with AICAR. (1994) (13)
Increased Activity of Adenine Phosphoribosyltransferase in Erythrocytes of Normal Newborn Infants (1974) (13)
Late-onset holocarboxylase synthetase deficiency (1996) (13)
Metabolic patterns for L-glutamate-U-C14 in slices of tumors and other tissues. (1957) (12)
Kinetic studies of normal and variant hypoxanthine phosphoribosyltransferases in intact fibroblasts. (1982) (12)
The effects of alanine ingestion on metabolic responses to exercise in cyclists (2009) (12)
Diagnosing disorders of fatty acid oxidation. (1995) (12)
Altered excreton of 5-hydroxyindoleacetic acid and glycine in patients with the Lesch-Nyhan disease. (1977) (12)
Determination of Biotinidase Activity in Human Plasma Using [14C]Biocytin as Substrate (1985) (12)
Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. (2011) (11)
Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. (1999) (11)
Propionic acidaemia presenting with pancytopaenia in infancy (1979) (11)
Metabolism of [U-14C]-4-hydroxybutyric acid to intermediates of the tricarboxylic acid cycle in extracts of rat liver and kidney mitochondria (2010) (11)
Genetic & malformation syndromes in clinical medicine (1976) (11)
Identification of a Familial Mutation Associated with GABA-Transaminase Deficiency Disease (1998) (11)
Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome (1972) (11)
Organic aciduria in neonatal multiple carboxylase deficiency (1982) (11)
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria (1988) (11)
Atlas of Inherited Metabolic Diseases 3E (2011) (11)
Identification of Methyl-branched Chain Dicarboxylic Acids in Amniotic Fluid and Urine in Propionic and Methylmalonic Acidemia (1984) (11)
Jamaican vomiting sickness and Reye's syndrome. (1976) (11)
Lessons from Lesch-Nyhan syndrome. (2002) (11)
Novel nucleoside inhibitors of guanosine metabolism as antitumor agents. (1984) (11)
A new immunochemical assay for biotin. (1991) (10)
Modulation of the behavioral effects of amphetamine in rats by clonidine. (1982) (10)
Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia. (1987) (10)
Reaction of antibody to normal human hypoxanthine phosphoribosyltransferase with products of mutant genes. (1976) (10)
Cavernous sinus thrombosis. (1980) (10)
Sensitive assay for mitochondrial DNA polymerase gamma. (1999) (10)
Excretion of tiglylglycine in propionic acidemia. (1972) (10)
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency (2009) (9)
Effects of nitrogen mustards on the incorporation of amino acids into the proteins of tumors and other tissues; the mustard derivative of serine. (1963) (9)
Metabolism of Glyoxylate in Nonketotic Hyperglycinemia (1969) (9)
Hypoxanthine and tetrahydrobiopterin treatment of a patient with features of the Lesch-Nyhan syndrome. (1986) (9)
Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism. (1985) (9)
ACQUIRED FANCONI SYNDROME FOLLOWING DEGRADED TETRACYCLINE. (1965) (9)
Management of premature infants with patent ductus arteriosus. (1978) (9)
Disorders of Valine-Isoleucine Metabolism (2003) (9)
Carnitine in adolescents. (1993) (9)
Structural abnormalities. A systematic approach to diagnosis. (1990) (9)
Effects of nitrogen mustards on the incorporation of amino acids into the proteins of tissues of tumor-bearing rats. I. Amino acid mustards and HN2. (1960) (9)
Effects of cytoxan on the proteins of sensitive and resistant strains of the L1210 leukemia. (1962) (9)
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene (2017) (9)
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts. (1985) (8)
Metabolic correlates of learning disability. (1989) (8)
Metabolic patterns for succinate-2-C14 in tissues of tumor-bearing rats. (1958) (8)
Understanding inherited metabolic disease. (1980) (8)
Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens. (1970) (8)
Mevalonic aciduria: Pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts (1988) (8)
Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia. (1978) (8)
Fructo-oligosaccharide tolerance in patients with hereditary fructose intolerance. A preliminary nonrandomized open challenge short-term study (2003) (8)
An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gel (1969) (8)
Supplementation of an elemental enteral diet with alanyl-glutamine decreases bacterial translocation in burned mice. (1994) (8)
4-Hydroxybutyric aciduria in a patient without ataxia or convulsions (1988) (8)
The treatment of acute lymphocytic leukemia. (1966) (8)
Use of a thick-film capillary column for the analysis of organic acids in body fluids. (1993) (8)
Nonketotic hyperglycinemia. (2020) (8)
Treatment of hyperglycinemia. (1967) (8)
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria (1984) (7)
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome (2016) (7)
The Lesch-Nyhan syndrome. (1973) (7)
Comprar Inherited Metabolic Diseases · A Clinical Approach | Hoffmann, Georg F. | 9783540747222 | Springer (2010) (7)
Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. (1977) (7)
An approach to the diagnosis of overwhelming metabolic disease in early infancy. (1977) (7)
Scimitar Syndrome (1982) (7)
Clinical Problems Relating to Biotin (1985) (7)
Atlas of Inherited Metabolic Diseases (2020) (7)
Lesch-Nyhan Disease and Related Disorders of Purine Metabolism (2007) (7)
Lead intoxication in children. (1985) (6)
Neurological diseases in disorders of organic acids. (1992) (6)
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase. (1977) (6)
Neonatal screening for inherited disease. (1985) (6)
Chemotherapy of the leukemic transformation of lymphosarcoma. (1967) (6)
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. (2019) (6)
The Excretion and Formation of Aminoacetone and δ-Aminolevulinic Acid in Man (1969) (6)
Separation of the intermediates of leucine catabolism by high-performance liquid chromatography. (1985) (6)
The Lesch-Nyhan syndrome. (1973) (6)
A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. (1991) (6)
Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease (2017) (5)
Metabolism of glycine in the normal individual and in patients with non-ketotic hyperglycinaemia (1982) (5)
Inborn Errors of Purine and Pyrimidine Metabolism (2006) (5)
The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation (2020) (5)
Biochemical correlates of the differential sensitivity of subtypes of human leukemia to deoxyadenosine and deoxycoformycin. (1982) (5)
Metabolism of leucine in fibroblasts from patients with deficiencies in each of the major catabolic enzymes: branched-chain ketoacid dehydrogenase, isovaleryl-CoA dehydrogenase, 3-methylcrotonyl-CoA carboxylase, 3-methylglutaconyl-CoA hydratase, and 3-hydroxy-3-methylglutaryl-CoA lyase. (1985) (5)
Research support in the U.S. (1976) (5)
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP) (2020) (5)
Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties. (1980) (5)
Tyrosinemia associated with perinatal infection with cytomegalovirus. (1978) (5)
Effects of thalidomide and chlorcyclizine on the biosynthesis of nucleic acids and proteins in fetal and maternal tissues of the rat. (1970) (5)
Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia (1989) (5)
Retinoblastoma – genetic insights into neoplasia (1987) (5)
Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis (1987) (5)
Non-ketotic hyperglycinaemia in a family with an unusual phenotype (1978) (5)
Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia. (1979) (5)
Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation — a new HPRT variant (1982) (4)
Change in Electrophoretic Mobility of Glucose- 6-Phosphate Dehydrogenase with Aging of Erythrocytes (1972) (4)
Down syndrome and recurrent abortions resulting from Robertsonian translocation 21q21q. (1995) (4)
Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency. (1985) (4)
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme (1972) (4)
Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency. (1968) (4)
Very long-chain acyl-CoA dehydrogenase deficiency (2011) (4)
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids. (1977) (4)
Neonatal growth in weight of normal infants on four different feeding regimens. (1954) (4)
Histidinuria: defective transport of histidine. (1992) (4)
HYPOXANTHINE AND TETRAHYDROBIOPTERIN TREATMENT OF A PATIENT WITH FEATURES OF THE LESCH-NYHAN SYNDROME: 118 (1985) (4)
Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis (1990) (4)
Evaluation of Adenine Therapy for Lesch-Nyhan Syndrome (1970) (4)
‘Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20‐year follow‐up’ (2008) (4)
[Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier]. (1985) (4)
Prenatal Treatment of Methylmalonic Acidemia (1975) (4)
Synergistic activity of purine metabolism inhibitors in cultured human tumor cells. (1987) (4)
Maroteaux-Lamy disease/mucopolysaccharidosis VI (MPS VI)/N-acetylgalactosamine-4-sulfatase deficiency (2005) (4)
Thrombocytosis during treatment of cystinuria with penicillamine (1966) (4)
Purine Metabolism and Abnormal Behavior in Children (1971) (4)
Multiple acyl CoA dehydrogenase deficiency (MADD)/Glutaric aciduria, type II/Ethylmalonic-adipic aciduria (2005) (4)
Identification of Novel Mutations in the Human HPRT Gene (2013) (4)
Cholinergic effects of beta-substituted derivatives of pyruvic acid. (1956) (3)
Reexpression of HPRT activity following cell fusion with polyethylene glycol (1978) (3)
Prenatal diagnosis of Lesch–Nyhan disease (2003) (3)
Disorders of Nucleic Acid Metabolism (1973) (3)
Shock following intravenous pyelography in patients with congenital adrenal hyperplasia. (1976) (3)
The cloverleaf skull (1978) (3)
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase in intact cells. (1984) (3)
Congenital disorder of glycosylation, type Ia (2005) (3)
Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the Literature. (2016) (3)
In vivo enzyme activation by biotin of multiple carboxylase deficiency in a neonate. (1980) (3)
4-Hydroxybutyric aciduria: A new inborn error of metabolism. III. Enzymology and inheritance (1984) (3)
The metabolism of 3-deazaguanine and 3-deazaguanosine by human cells in culture. (1986) (3)
Studies on the mechanism of cytotoxicity of 3-deazaguanosine in human cancer cells (2004) (3)
Biochemical basis for the differential effects of deoxycoformycin on human leukemias. (1984) (3)
Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein (2017) (3)
When to Suspect Metabolic Disease (2010) (3)
Disorders of Purine Metabolism (2015) (3)
Biotin‐related abnormalities in human metabolism (1984) (3)
MULTIPLE MOLECULAR FORMS OF THE PURINE PHOSPHORIBOSYL TRANSFERASES (1975) (3)
Effects of tryptophan mustard on incorporation of amino acids into proteins in tumor-bearing rats. (1966) (3)
Editorial: Diabetic ketosis and acidosis: The continuous infusion of low doses of insulin. (1975) (3)
COMA DUE TO TRANSIENT HYPERAMMONEMIA IN THE PRETERM INFANT (1977) (3)
A screening method for cystine and homocystine in urine. (1992) (3)
5′-Nucleotidase: Solubilization, radiochemical analysis, and electrophoresis (1979) (3)
Lesch–Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene (2015) (3)
Analysis of radioactive and nonradioactive purine bases, purine nucleosides and purine nucleotides by high-speed chromatography on a single column. (1978) (3)
Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency (2005) (2)
[Megaloblastic anemia in Lesch-Nyhan disease]. (1984) (2)
Inborn errors of metabolism. (1971) (2)
Variation in human HPRT and its relationship to neurologic and behavioral manifestations. (1980) (2)
Tryptophan mustard (NSC-62403) in the treatment of acute leukemia and malignant solid tumors in children. (1968) (2)
Sanjad-Sakati syndrome (2005) (2)
Transient hyperammonemias in infants with and without organic acidemia. (1982) (2)
Clinical and biochemical expression of a unique mucopolysaccharidosis (1976) (2)
SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency (2001) (2)
Specialty conference: management of infants with diaphragmatic hernia. (1977) (2)
The Lesch-Nyhan syndrome. (1978) (2)
Approaches to the chemical therapy of tumors. (1959) (2)
On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease". (2012) (2)
Specialty conference. Staphylococcal pneumonia. (1978) (2)
Genetic Defects of Amino Acid Metabolism (1963) (2)
A NEW FORM OF CONGENITAL LACTIC ACIDOSIS (1977) (2)
Specialty conference: potpourri of adenoviral infections. (1974) (2)
Bone marrow transplantation in Lesch-Nyhan disease. (1986) (2)
Study of immunoreactive material in patients with deficient HPRT activity. (1977) (2)
Cytogenetic diseases. (1983) (2)
Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin (2011) (2)
Genetically determined molecular variation in man (1977) (2)
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene (2017) (2)
The diagnosis and management of propionic acidemia. (1978) (2)
Lesch-Nyhan disease and variants (2011) (2)
Book Review: The Consequences of Chromosome Imbalance—Principles, Mechanisms and Models (1988) (1)
Prenatal Treatment of Biotin‐responsive Multiple Carboxylase Deficiency a (1985) (1)
Deficiency of the pyruvate dehydrogenase complex (2020) (1)
BONE MARROW TRANSPLANTATION IN LESCH-NYHAN DISEASE: 147 (1985) (1)
Effects of a nitrogen mustard on the incorporation of amino acids into the proteins of tumor slices. (1966) (1)
Hypothyroidism, Congenital (2005) (1)
Specialty Conference monary Alveolar )teinosis iiratory Medicine Rounds of (2005) (1)
Editorial: Prenatal treatment of methylmalonic acidemia. (1975) (1)
Introduction to disorders of fatty acid oxidation (2005) (1)
3-Methylglutaconic aciduria (2005) (1)
Nucleosides , Nucleotides and Nucleic Acids (2008) (1)
Short-chain acyl CoA dehydrogenase (SCAD) deficiency (2005) (1)
Biochemical Correlates of Auto-Aggressive Behavior (1990) (1)
Purine and Pyrimidine Metabolism in Man V (2013) (1)
Workup of the Patient with Metabolic Acidosis and Massive Ketosis (2017) (1)
Work-Up of the Patient with Hyperammonemia (2017) (1)
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria (1985) (1)
Other forms of congenital disorders of glycosylation (2005) (1)
Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS) (2011) (1)
Influence of nutrition on growth and development of a long-surviving harlequin fetus (1992) (1)
Maple syrup urine disease (branched-chain oxoaciduria) (2005) (1)
Hurler disease/mucopolysaccharidosis type IH (MPSIH)/-L-iduronidase deficiency (2005) (1)
Newly recognized hazard in the newborn nursery (1969) (1)
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency (2011) (1)
Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency (2011) (1)
Editorial comment: more on the treatment of acute leukemia. (1966) (1)
Isovaleric acidemia: Identification isovalerate, isovalerylglycine, and 3-bydroxyisovalerate in urine previously reported as baying (1973) (1)
Deficiency of the pyruvate dehydrogenase complex (PDHC) (2005) (1)
Human Purine Metabolism and Behavior (1970) (1)
Workup of the Patient with Lactic Acidemia: Mitochondrial Disease (2017) (1)
Letter to the editorEditorial correspondenceReply (1976) (1)
Septic arthritis due to Hemophilus influenzae. (1968) (1)
ALTERED KINETIC PROPERTIES OF PYRUVATE DECARBOXYLASE IN A PATIENT WITH LACTIC ACIDEMIA (1977) (1)
3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome. (2006) (1)
Croup and epiglottitis. (1975) (1)
Classification of inborn errors of metabolism associated with mental retardation. (1967) (1)
Carnitine palmitoyl transferase II deficiency, late onset (2011) (1)
Factitious disease in pediatrics. (1979) (1)
Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper (2015) (1)
Editorial: Genetic heterogeneity of human enzymes. (1976) (1)
Tay-Sachs disease/hexosaminidase A deficiency (2011) (1)
Kidney Disease and Electrolyte Disturbances (2010) (1)
Emergency Treatment of Inherited Metabolic Diseases (2017) (1)
Change in Electrophoretic Mobility of Glucose-6-Phosphate Dehydrogenase with Aging of Erythrocytes (1972) (1)
Resuscitation of the Newborn Infant and Related Emergency Procedures in the Perinatal Center Special Care Nursery: Principles and Practice (1973) (1)
Long chain L-3-hydroxyacyl CoA dehydrogenase – (trifunctional protein deficiency) (2011) (1)
Southern analysis of the Lesch-Nyhan locus in man. (1984) (1)
Work-Up of the Patient with Hypoglycemia (2017) (1)
Metabolism of leucine in fibroblasts with defects in the leucine catabolic pathway. (1987) (1)
Roentgenographic examination of infants in an incubator; a new device insuring environmental constancy. (1956) (1)
Detection of hypoxanthine guanine phosphoribosyl transferase heterozygotes by thin layer chromatography and autoradiography. (1984) (1)
Genetic complementation analysis of 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in cultured fibroblasts (1984) (1)
A technique for roentgenographic examination of newborn, premature, or ill infants without removal from an incubator. (1954) (1)
Adenine phosphoribosyl-transferase deficiency (2011) (1)
Anesthesia and Metabolic Disease (2010) (1)
A new disorder of purine metabolism behavioral manifestations Mtb (1969) (1)
The excretion and formation of aminoacetone and delta-aminolevulinic acid in man. (1969) (1)
Pyrimidine Responsive Syndrome of Neurologic Dysfunction and Susceptibility to Infection. • 639 (1997) (0)
Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency (2011) (0)
D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria (2020) (0)
Disorders of creatine metabolism (2005) (0)
75. Use of Nitrofurans in Neonates (1969) (0)
GM2 activator deficiency/GM2 gangliosidosis – deficiency of the activator protein (2011) (0)
Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149] (2006) (0)
Books Received (1975) (0)
3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria (2020) (0)
GM1 gangliosidosis/-galactosidase deficiency (2005) (0)
Non-ketotic hyperglycinaemia: prenatal diagnosis and detection of heterozygotes with glycine/serine ratios (1987) (0)
Citrullinemia (2020) (0)
Different phenotypes among Lesch-Nyhan variants: Clinical reality or limitation of ascertainment? Reply (2011) (0)
Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency (2020) (0)
Introduction to the organic acidemias (2020) (0)
Isovaleric acidemia (2020) (0)
Biogenic amines (2020) (0)
Ornithine transcarbamylase deficiency (2011) (0)
Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency (2020) (0)
Carnitine translocase deficiency (2005) (0)
The Human Folate Receptor 1 Gene: Molecular Diagnostic of Folate Deficiency (2012) (0)
Adrenoleukodystrophy (2020) (0)
Glutamyl-ribose-5-phosphate storage disease/ADP-ribosyl-protein lyase deficiency (2005) (0)
Prenatal therapy of genetic disease-methylmalonic acidemia (1976) (0)
Hyperuricemia (Lesch-Nyhan Disease) (2017) (0)
Argininosuccinic aciduria (2020) (0)
Differentiation of Metabolic Disease from Asphyxia in the Very Young Infant (1978) (0)
Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency (2020) (0)
Serine deficiencies (2020) (0)
3-Hydroxy-3-methylglutarylCoA lyase deficiency (2020) (0)
The Effects of Alanine Supplementation on Plasma Amino Acid Concentrations, Fuel Substrates and Endurance: 1998 (2006) (0)
PRENATAL DIAGNOSIS OF HEMOCLOBIN-H DISEASE BY MOLECULAR HYBRIDIZATION (1977) (0)
A syndrome of seizures and pervasive developmental delay associated with excessive cellular nucleotidase activity (1997) (0)
Sanfilippo disease/mucopolysaccharidosis type III (MPS III) (2005) (0)
Allergic rhinitis. (2020) (0)
Lesch-Nyhan disease and the non-Lesch-Nyhan variants of HPRT (2005) (0)
Lipoprotein lipase deficiency/type I hyperlipoproteinemia (2005) (0)
Phosphoribosylpyrophosphate synthetase and its abnormalities (2011) (0)
Argininemia (2020) (0)
LACTIC ACIDEMIA, HYPERALANEMIA AND CARNITINE ABNORMALITIES IN DOGS WITH LIPID STORAGE MYOPATHY: 185 (1995) (0)
COMPLICATIONS OF MENINGITIS1,2 (1962) (0)
Prenatal Diagnosis of Propionicacidemia (1980) (0)
Joseph disease (1979) (0)
Introduction to hyperammonemia and disorders of the urea cycle (2005) (0)
Specialty Conference The Management of Diabetic Acidosis (2005) (0)
Galactosemia (2020) (0)
Hurler disease/mucopolysaccharidosis type IHa- L-iduronidase deficiency (2011) (0)
[Lesch-Nyhan disease studied in intact fibroblasts]. (1983) (0)
Prenatal diagnosis and mechanisms of teratogenesis (1982) (0)
Lesch–Nyhan disease and variants (2020) (0)
Multiple carboxylase deficiency/biotinidase deficiency (2020) (0)
Nitrogen, calcium, phosphorus, and fat balance studies in healthy infants fed an isolated whey protein-based formula (1993) (0)
61 PRENATAL DIAGNOSIS OF MEVALONIC ACIDURIA BY STABLE ISOTOPE DILUTION GCMS (1986) (0)
QuantitativeAnalysisfor Organic Acids in BiologicalSamples : Batch IsolationFollowed by Gas Chromatographic-MassSpectrometncAnalysis (2004) (0)
Inborn Errors of Amino Acid Metabolism (2015) (0)
Specialty conference. Spinal dysraphism: an interdisciplinary diagnostic approach. (1978) (0)
CONGENITAL CMV INFECTION PRESENTING AS TYROSINEMIA (1977) (0)
Sly disease/ß- glucuronidase deficiency/mucopolysaccharidosis VII (2011) (0)
Kearns–Sayre syndrome (2005) (0)
Comprar Atlas Of Inherited Metabolic Diseases | William L. Nyhan | 9781444112252 | Hodder Education (2012) (0)
Adenosine deaminase deficiency (2020) (0)
Pyruvate carboxylase deficiency (2011) (0)
Patient Care and Treatment (2010) (0)
4-Hydroxybutyric aciduria (2011) (0)
Multiple sulfatase deficiency (2005) (0)
Disorders of creatine synthesis or transport (2011) (0)
Introduction to the disorders of purine and pyrimidine metabolism (2020) (0)
Glycogen storage disease: introduction (2005) (0)
The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency (2005) (0)
Methylmalonic acidemia (2020) (0)
Clinical and Metabolic Abnormalities in a Boy with Dietary Deficiency of Biotin (1981) (0)
FDA Committee Decision Explained. (1965) (0)
Attenuated variants of Lesch–Nyhan disease Lesch–Nyhan (2010) (0)
Disorders of amino acid metabolism (2011) (0)
Specialty Conference Factitious Disease -in Pediatrics (2005) (0)
Disorders of fatty acid oxidation (2011) (0)
FDA Committee Decision Explained (1965) (0)
105 THE SPECTRUM OF HPRT DEFICIENCY: AN UPDATE (1988) (0)
Adenylosuccinate lyase deficiency (2005) (0)
Carpenter Syndrome: Acrocephalopolysyndactyly Type II (1983) (0)
Adenine phosphoribosyltransferase (APRT) deficiency (2020) (0)
Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase (2005) (0)
Hereditary Orotic Aciduria and the Excretion of Orotidine (2016) (0)
Neurocutaneous Disorders: Lesch–Nyhan syndrome (2004) (0)
Neonatal Screening for Inborn Errors of Metabolism. H. Bickel, R. Guthrie, and G. Hammersen, Eds. Springer-Verlag, Berlin, Heidelberg, New York. Distributed by Springer-Verlag New York Inc, New York, NY. xvii + 345 pp. Publ. 1980. $50.70 (1982) (0)
High voltage electrophoresis of amino acids in urine containing ampicillin. (1993) (0)
Hunter disease/mucopolysaccharidosis type II (MPS II)/iduronate sulfatase deficiency (2005) (0)
MONOAMINE AND AMINO ACID TURNOVER IN THE LESCH-NYHAN SYNDROME: EFFECTS OF L-5-HYDROXYTRYPTOPHAN (L-5-HTP) (1977) (0)
3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria (2005) (0)
ALANINE DECREASES THE PROTEIN REQUIREMENT OF INFANTS METABOLISM (1984) (0)
Mucolipidosis III/psuedo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-phosphotransferase deficiency (2005) (0)
3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency (2011) (0)
The lactic acidemias and mitochondrial disease (2011) (0)
Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome (2020) (0)
Radioactive isotopes in clinical medicine. (1956) (0)
Propionic acidemia (2020) (0)
Cystic fibrosis. (1988) (0)
Lesch nyhan phenocopy in a patient with normal purine salvage and abnormal nucleotide metabolism (1978) (0)
I-cell disease/mucolipidosis II (2005) (0)
Medium-chain acyl CoA dehydrogenase deficiency (2020) (0)
Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/-iduronidase deficiency (2005) (0)
Malformation syndromes in human genetic disease. (1973) (0)
Myoclonic epilepsy and ragged red fiber (MERRF) disease (2005) (0)
α1-Antitrypsin deficiency (2005) (0)
Carnitine palmitoyl transferase II deficiency, lethal neonatal (2020) (0)
Basic science aspects (1986) (0)
Inborn errors of amino acid metabolism phenylketonuria and disorders of biopterin metabolism (2020) (0)
Fragile 22Q13.1 in an infant with growth and mental retardation, poikiloderma, and ethylmalonic-adipic aciduria (1992) (0)
The use of a glutamine-enriched enteral feeding in the treatment of malabsorption and diarrhea in an infant with hypoalbuminemia (1993) (0)
BIOCHEMICAL CHARACTERISTICS OF TUMORS. (1967) (0)
Homocystinuria (2020) (0)
Carbamylphosphate synthetase deficiency (2011) (0)
Promising directions in pediatric research. (1983) (0)
Neurodegeneration, ataxia and retinitis pigmentosa (NARP) (2005) (0)
3-Hydroxy-3-methylglutarylCoA lyase deficiency: Hoek and its application to engineering (2011) (0)
Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency (2005) (0)
Glutaric aciduria (type I) (2020) (0)
An approach to the treatment of asthma. (1978) (0)
Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation (2017) (0)
Neutropenia of childhood. (1982) (0)
Introduction to mucopolysaccharidoses (2011) (0)
Neurodegeneration, ataxia, and retinitis pigmentosa (NARP) (2020) (0)
Pearson syndrome (2020) (0)
Detection of beterozygous carriers of the Lescb-Nyban syndrome by electropboresis of bait root lysates (1973) (0)
Purines and pyrimidines (2020) (0)
[Lesch-Nyhan disease. Study of a new patient (author's transl)]. (1982) (0)
The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) (2020) (0)
Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency (2020) (0)
Glutamine synthetase deficiency (2011) (0)
Lipid storage disorders (2011) (0)
Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations (2017) (0)
Fructose-1,6-diphosphatase deficiency (2020) (0)
Citrullinemia type I (2020) (0)
Alkaptonuria (2020) (0)
Molybdenum Cofactor Deficiency (2018) (0)
Neonatal citrullinemia." Treatment with analogues of essential amino acids keto- (1976) (0)
23. Concentrations of Uric Acid in the Serum of Neonatal Infants and Their Mothers (1969) (0)
Inborn errors of purine catabolism. (1981) (0)
Carnitine palmitoyl transferase I deficiency (2020) (0)
Intestinal obstruction due to peritoneal adhesions as a complication of peritoneal dialysis for neonatal hyperammonemia (2004) (0)
Propionylglycine in propionic acidaemia 667 (2012) (0)
A syndrome of seizures and pervasive developmental disorder associated with excessive cellular nucleotidase activity. (1998) (0)
The Neuropathology of Propionic Acidemi A: A Report of Two Additional Cases (1993) (0)
Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria (2020) (0)
Sly disease/-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII) (2005) (0)
Anophthalmia with syndactyly and limb anomalies, Waardenburg type (1992) (0)
Clinical aspects including molecular genetics (1986) (0)
6-pyruvoyl tetrahydropterin synthase deficiency: a case report. (2003) (0)
Antenatal diagnosis, Albert Dorfman (Ed.). University of Chicago Press, Chicago (1972) (1973) (0)
Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency (2020) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Lesch-Nyhan Syndrome]. (2014) (0)
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria (2020) (0)
Short-chain acyl CoA dehydrogenase deficiency (2011) (0)
The role of lipid in the mangaement of methylmalonic acidaemia: Administration of linoleic acid does not increase excretion of methylmalonic acid (1985) (0)
Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency (2005) (0)
EFFECTS OF CARCINOSTATIC AGENTS ON AMINO ACID METABOLISM IN THE WALKER CARCINOSARCOMA. (1958) (0)
Disorders of cholesterol and neutral lipid metabolism (2011) (0)
Phenylketonuria (2020) (0)
Amino Acid Metabolism and its Disorders (1974) (0)
Confer~ence Neutropenia of Childhood (2005) (0)
Phenylalanine and Mental Retardation (PKU) (1989) (0)
[Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members]. (1982) (0)
2-Oxoadipic aciduria (2005) (0)
3-Hydroxyisobutyric aciduria (2005) (0)
Sanfilippo disease/mucopolysaccharidosis type III (2011) (0)
List of contributors. (2019) (0)
The management of diabetic acidosis. (1977) (0)
Carnitine-acylcarnitine translocase deficiency (2011) (0)
Glycogen storage diseases: introduction (2011) (0)
Disorders of carbohydrate metabolism (2011) (0)
RED BLOOD CELL (RBC) SURVIVAL IN IRON DEFICIENT INFANTS DETERMINED BY ANALYSIS OF RBC SIZE DISTRIBUTION CURVES (1977) (0)
Hyperammonemia and disorders of the urea cycle (2011) (0)
Disorders of transport and mineral metabolism (2011) (0)

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