David S Rosenblatt | Academic Influence

David S Rosenblatt's AcademicInfluence.com Rankings

David S Rosenblatt

Philosophy

#8782

World Rank

#12227

Historical Rank

Logic

#5801

World Rank

#7240

Historical Rank

philosophy Degrees

Download Badge

Philosophy

David S Rosenblatt's Degrees

Doctorate Medicine Harvard University
PhD Biomedical Sciences Stanford University

Why Is David S Rosenblatt Influential?

(Suggest an Edit or Addition)

According to Wikipedia, David Rosenblatt is a Canadian medical geneticist, pediatrician, and professor in the departments of Human Genetics, Medicine, Pediatrics, and Biology at McGill University in Montreal, Quebec, where he was the chairman of the Department of Human Genetics from 2001 to 2013. He is known for his contributions to the field of inborn errors of folate and vitamin B12 metabolism.

(See a Problem?)

David S Rosenblatt'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

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (1994) (912)
Update on cobalamin, folate, and homocysteine. (2003) (410)
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. (1996) (403)
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. (1998) (378)
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006) (314)
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. (2000) (312)
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. (1999) (311)
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. (1995) (280)
Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease. (1997) (241)
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) (1997) (193)
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. (2003) (192)
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism (2012) (182)
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations (2009) (171)
Novel reductant for determination of total plasma homocysteine. (1997) (170)
Inborn errors of cobalamin absorption and metabolism (2011) (170)
The effect of 677C-->T and 1298A-->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects. (2000) (168)
Inherited Disorders of Folate and Cobalamin (1997) (164)
Gene identification for the cblD defect of vitamin B12 metabolism. (2008) (156)
Predictive value of apolipoprotein E genotyping in Alzheimer's disease: Results of an autopsy series and an analysis of several combined studies (1994) (152)
Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. (1989) (151)
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. (1996) (150)
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism (2009) (148)
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. (2007) (147)
Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia (2001) (142)
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. (2002) (142)
Accumulation of methotrexate and methotrexate polyglutamates in lymphoblasts at diagnosis of childhood acute lymphoblastic leukemia: a pilot prognostic factor analysis. (1990) (141)
Mechanisms of teratogenesis: folic acid and antiepileptic therapy. (1992) (128)
Anticonvulsants, folate levels, and pregnancy outcome: A prospective study (1987) (128)
Clinical presentation and outcome in a series of 88 patients with the cblC defect (2014) (122)
Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. (2009) (122)
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements (2002) (120)
Inherited defects of vitamin B12 metabolism. (1987) (118)
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (2012) (115)
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. (2006) (114)
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. (1985) (114)
Methylenetetrahydrofolate reductase. (2001) (112)
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. (2013) (109)
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. (1984) (107)
Cobalamin and folate deficiency: acquired and hereditary disorders in children. (1999) (103)
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype (2006) (102)
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. (2002) (99)
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria (2000) (98)
Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. (1988) (94)
Cobalamin C defect associated with hemolytic-uremic syndrome. (1992) (93)
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. (1999) (90)
Vitamin B12 Deficiency in Inflammatory Bowel Disease: Prevalence, Risk Factors, Evaluation, and Management (2014) (88)
Prolonged inhibition of DNA synthesis associated with the accumulation of methotrexate polyglutamates by cultured human cells. (1978) (88)
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. (1984) (88)
ARHGDIA: a novel gene implicated in nephrotic syndrome (2013) (85)
The Neurology of Cobalamin (1992) (84)
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. (1988) (75)
Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man (1968) (74)
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. (1988) (72)
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. (1993) (69)
Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. (2005) (68)
Experience over fifteen years with a protocol for predictive testing for Huntington disease. (2011) (68)
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients (2018) (65)
Update and new concepts in vitamin responsive disorders of folate transport and metabolism (2012) (65)
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. (1999) (64)
Methylenetetrahydrofolate Reductase in Cultured Human Cells. II. Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency (1977) (61)
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. (1986) (60)
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin‐bound vitamin B12 (2010) (60)
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband (2011) (59)
Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. (2004) (58)
Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene: Relevance for Other Adult-Onset Disorders (1993) (57)
Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency. (1993) (56)
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation (2003) (56)
Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance (2007) (56)
PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY (COBALAMIN E DISEASE) (1985) (55)
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. (2010) (55)
Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH) (2000) (55)
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency (2001) (54)
Update on transcobalamin deficiency: clinical presentation, treatment and outcome (2014) (53)
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism (2004) (53)
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) (2001) (53)
Inherited disorders of vitamin B12 utilization (1990) (53)
Defects in Auxiliary Redox Proteins Lead to Functional Methionine Synthase Deficiency* (1997) (52)
The molecular basis of glutamate formiminotransferase deficiency (2003) (52)
Clinical correlates of subnormal vitamin B12 levels in patients infected with the human immunodeficiency virus (1995) (52)
Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency. (1979) (52)
SYNTHESIS OF METHOTREXATE POLYGLUTAMATES IN CULTURED HUMAN CELLS (1977) (51)
Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations (1997) (51)
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. (1998) (48)
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF). (1986) (47)
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. (2009) (47)
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis (2014) (46)
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype (2011) (46)
Polycystic kidney diseases in childhood. (1989) (45)
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism. (2011) (45)
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. (1981) (45)
New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. (1986) (44)
Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1 (2012) (44)
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin (1999) (44)
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. (2006) (42)
Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region. (1986) (42)
Changes in cobalamin metabolism are associated with the altered methionine auxotrophy of highly growth autonomous human melanoma cells (1991) (41)
Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death. (1989) (41)
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities (2017) (41)
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. (2005) (41)
Inherited disorders of cobalamin metabolism. (1994) (41)
Autosomal dominant polycystic kidney disease in the fetus. (1994) (40)
Identification of two mutant alleles of transcobalamin II in an affected family. (1994) (39)
Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography. (1991) (38)
Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene (2017) (38)
Nonsense mutations in human transcobalamin II deficiency. (1994) (38)
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. (2011) (37)
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. (1997) (37)
Tubulointerstitial nephritis in methylmalonic acidemia (1993) (37)
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. (1991) (36)
Vitamin B(12) and birth defects. (2009) (36)
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes. (1990) (36)
Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening. (2008) (36)
Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients. (1994) (35)
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. (1997) (34)
A homozygous nonsense mutation in the methylmalonyl‐CoA epimerase gene (MCEE) results in mild methylmalonic aciduria (2006) (34)
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. (2012) (34)
Inherited disorders of vitamin B12 metabolism. (1987) (34)
Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency. (1987) (33)
Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects. (2005) (33)
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (2006) (33)
Lessons in biology from patients with inborn errors of vitamin B12 metabolism. (2013) (32)
Methylenetetrahy drofolate Reductase in Cultured Human Cells. I. Growth and Metabolic Studies (1977) (32)
9 Effects of folate deficiency on embryonic development (1995) (32)
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. (2014) (31)
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site (2003) (31)
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment (2015) (31)
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. (2014) (30)
Seven novel mutations in mut methylmalonic aciduria (1998) (30)
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. (2013) (30)
Synthesis of methotrexate polyglutamates by bone marrow cells from patients with leukemia and lymphoma. (1980) (30)
In Vitro and in Vivo Inactivation of Transcobalamin II Receptor by Its Antiserum (*) (1996) (30)
Reciprocal changes in the levels of functionally related folate enzymes during the culture cycle in human fibroblasts. (1973) (29)
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking (2014) (29)
Disorders of Cobalamin and Folate Transport and Metabolism (2012) (29)
Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada? (2013) (29)
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. (2013) (29)
Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family (1999) (28)
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. (2012) (28)
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. (2006) (27)
Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome. (1999) (26)
Osteonecrosis of the femoral head: genetic basis (2018) (26)
Chromosomal breakage in normal and fragile X subjects using low folate culture conditions. (1983) (26)
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts. (1992) (26)
Differential effects of folinic acid and glycine, adenosine, and thymidine as rescue agents in methotrexate-treated human cells in relation to the accumulation of methotrexate polyglutamates. (1982) (26)
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening. (2009) (26)
Fragile X. (1982) (25)
Inborn errors of cobalamin metabolism. (1999) (25)
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings. (2013) (25)
Effects of folate deficiency on embryonic development. (1995) (24)
Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia. (1991) (24)
Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4 (2014) (24)
Erratum: Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (1994) (24)
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator (2016) (23)
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. (1994) (23)
Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). (2011) (23)
Vitamin B12 Metabolism during Pregnancy and in Embryonic Mouse Models (2013) (22)
Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease. (1988) (22)
Folate polyglutamate synthesis and turnover in cultured human fibroblasts. (1979) (22)
Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence. (2009) (21)
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy. (2014) (21)
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening (2015) (21)
The Mmachc gene is required for pre-implantation embryogenesis in the mouse. (2014) (21)
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. (2012) (21)
Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood (2008) (21)
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism. (2016) (21)
Folic acid blinded trial in identical twins with fragile X syndrome. (1985) (21)
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. (2011) (20)
Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes. (1996) (20)
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) (2007) (20)
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease) (1997) (20)
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells (1990) (19)
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. (1998) (19)
Expression of transcobalamin II by amniocytes (1987) (19)
Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate (2003) (19)
Genetic and molecular control of folate-homocysteine metabolism in mutant mice (2002) (19)
Lethal late onset cblB methylmalonic aciduria (2000) (19)
Heterogeneity in cblG: differential retention of cobalamin on methionine synthase. (1992) (19)
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head (2016) (18)
Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice. (2006) (18)
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. (1996) (18)
Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption [letter] (1992) (18)
Effect of Methionine and Nitrous Oxide on Homocysteine Export and Remethylation in Fibroblasts from Cystathionine Synthase-Deficient, cblG, and cblE Patients (1994) (18)
Inhibition of methotrexate polyglutamate accumulation in cultured human cells. (1981) (18)
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy. (1994) (17)
Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine (1997) (17)
Differences in Liver Folate Enzyme Patterns in Premature and Full Term Infants (1982) (17)
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism. (2016) (17)
A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening (2013) (16)
A common mutation among blacks with mut− methylmalonic aciduria (1998) (16)
Local Cerebral Glucose Utilization in Two Models of B12 Deficiency (1983) (16)
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. (2014) (16)
Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings? (2013) (16)
Methotrexate polyglutamate synthesis in lymphoblasts from children with acute lymphoblastic leukemia. (1987) (15)
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A (2016) (15)
Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient (2011) (15)
Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome. (1983) (15)
Sacrificial Cobalt-Carbon Bond Homolysis in Coenzyme B12 as a Cofactor Conservation Strategy. (2018) (15)
Transcobalamin II deficiency with methylmalonic aciduria in three sisters (1999) (15)
Homocysteine: relationship to serum cobalamin, serum folate, erythrocyte folate, and lobation of neutrophils. (1994) (14)
Cobalamin and Inborn Errors of Cobalamin Absorption and Metabolism (2001) (13)
Histidinemia discovered by urine screening after renal transplantation. (1970) (13)
Exome and whole‐genome sequencing for gene discovery: The future is now! (2012) (13)
Expression of Mmachc and Mmadhc during mouse organogenesis. (2011) (13)
Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism (2013) (11)
Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists. (1991) (11)
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. (2005) (11)
Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism. (2007) (11)
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene (2016) (11)
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA. (1997) (11)
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. (2019) (10)
Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy (1994) (10)
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients (2018) (10)
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD. (1991) (9)
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease‐causing mutation (2007) (9)
Methotrexate polyglutamates in cultured human cells. (1983) (9)
82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE. (2007) (8)
Inherited Disorders of Cobalamin and Folate Absorption and Metabolism (1995) (8)
Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism. (2020) (8)
New insights into the metabolic and nutritional determinants of severe combined immunodeficiency (2015) (8)
cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling. (1990) (8)
Genetic screening for breast cancer. (1996) (8)
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy (2022) (7)
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 (2022) (7)
The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism. (2019) (7)
Methionine auxotrophy in inborn errors of cobalamin metabolism. (1992) (7)
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis (2014) (7)
Folate coenzyme forms in fibroblasts from patients deficient in 5,10-methylenetetrahydrofolate reductase. (1976) (6)
Transcobalamin (TC) deficiency and newborn screening (2012) (6)
A RaDiCAL approach to gene discovery (2011) (6)
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes (2022) (6)
Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption. (1992) (5)
Development of arthritis in Lowe's syndrome (1974) (5)
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. (2013) (5)
Transport competence of plasma membrane vesicles from cultured human fibroblasts. (1985) (5)
Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism (2005) (5)
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency. (2020) (5)
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC. (2021) (4)
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2019) (4)
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. (2016) (4)
Nutrigenes, functional genomics and systems biology. (2003) (4)
Methotrexate metabolism by bone marrow cells from patients with leukemia. (1983) (4)
Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolism. (2008) (4)
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. (2020) (4)
Methionine Synthase Reductase (2002) (3)
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment (2021) (3)
Letter: Development of arthritis in Lowe's syndrome. (1974) (3)
Inherited defects of cobalamin metabolism. (2022) (3)
The banking of DNA for the prevention of genetic disease. (1991) (3)
Effect of nitrous oxide anaesthesia on homocystine excretion (1982) (3)
Vitamin B12 (Cb1)-Responsive Disorders (1992) (3)
Molecular Bases of Hyper-Homocysteinemia due to Inborn Errors of Folate and Cobalamin Metabolism (2002) (3)
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene (1998) (3)
The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis. (2012) (3)
Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation (1992) (3)
Inherited Defects of Cobalamin Metabolism (2017) (3)
Cultured Human Fibroblasts and Plasma Membrane Vesicles to Investigate Transport Function and the Effects of Genetic Mutation a (1985) (3)
Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006) (3)
852 PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY (1985) (3)
Novel Reductant for Determination of Total Plasma (1997) (2)
The Causes of Epilepsy: Disorders of cobalamin and folate metabolism (2011) (2)
Deletional -Thalassemia with High HB A 2 (1988) (2)
Selective deficiencies of methyl-B12 (cblE and cblG) (1989) (2)
Vitamin B12 (Cbl)-responsive disorders. (1992) (2)
Heterogeneity in Functional Methionine Synthase Deficiency (1986) (2)
Molecular Characterization of an Atypical j0-Thalassemia Caused by a Large Deletion in the 5' P-Globin Gene Region (2006) (2)
Gain-of-function mutation in TRPV 4 identi fi ed in patients with osteonecrosis of the femoral head (2016) (1)
Whole Person Care and the Revolution in Genetics (2011) (1)
Vitamin B12: Disorders of Absorption and Metabolism (2010) (1)
Folic acid to prevent neural tube defects: time for food fortification. (1996) (1)
The evolution of medicine--a geneticist's point of view. (2000) (1)
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene (2022) (1)
F. Clarke Fraser (1920–2014) (2015) (1)
Identification of variant apolipoprotein E by isoelectric focusing and restriction isotyping in a patient with type III hyperlipoproteinemia. (1991) (1)
Primary antibody deficiency associated with ring chromosome 18 (2020) (1)
Deletional beta-thalassemia with high Hb A2. (1988) (1)
Severe Combined Immunode fi ciency Resulting From Mutations in MTHFD 1 abstract Folate and vitamin B (2012) (1)
“Cubam” goes to the dogs (2005) (1)
Prenatal Diagnosis of Miscellaneous Biochemical Disorders (1986) (1)
FOLATE COENZYMES IN METHYLENE-H4PTEGLU REDUCTASE (MR) DEFICIENT FIBROBLASTS (1977) (1)
Perspective on the future of genetic counseling assistants - Should it be a steppingstone or a stand-alone career? (2022) (1)
Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association? (2022) (1)
Knowledge of nephrologists and patients about autosomal dominant polycystic kidney disease (ADPKD). (1992) (1)
Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency. (1993) (1)
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71]. (2017) (1)
Methotrexate Polyglutamates in Human Fibroblasts: Reversal of Antifolate Cytotoxicity (1983) (1)
Methotrexate metabolism in mutant Chinese hamster ovary cells lacking dihydrofolate reductase. (1986) (1)
M202 PERSISTENT MTHFD1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY DESPITE FOLINIC ACID SUPPLEMENTATION; HEMATOPOIETIC ALLOGENEIC TRANSPLANTATION REQUIRED (2021) (1)
Chromosomal breakage innormal andfragile X subjects using lowfolate culture conditions (1983) (1)
Vitamin B 12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH (2000) (1)
Levels of Folates and Methotrexate Polyglutamate Formation in Chinese Hamster Ovary Cells Lacking Dihydrofolate Reductase (1986) (0)
Symposium: Improving Human Nutrition through Genomics, Proteomics and Biotechnologies Nutrigenes, Functional Genomics and Systems Biology 1 (2003) (0)
Ronin (Thap11) Deficiency Results in a Disease Impacting both Vitamin B12 Metabolism and Ribosome Biogenesis (2019) (0)
Effect of cocultivation on the mutant phenotype of cbl c and cbl f fibroblasts (1988) (0)
654 TEMPORAL RELATIONSHIP BETWEEN ACCUMULATION OF METHOTREXATE POLYSLUTAMATES AND PROLONGED INHIBITION OF DNA SYNTHESIS (1978) (0)
Folic acid supplementation and neural tube defects. (1994) (0)
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta. (2020) (0)
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2020) (0)
Corrigendum to “The Mmachc gene is required for pre-implantation embryogenesis in the mouse” [Mol. Genet. Metab. 112 (2014) 198–204] (2014) (0)
A RaDiCAL gene hunt (2017) (0)
Seven novel mutations at the 5,10-methylenetetrahydrofolate reductase locus (1994) (0)
Methotrexate Metabolism in Acute Lymphoblastic Leukemia (1983) (0)
NEW MUTATION IDENTIFIED IN FOUR UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY. † 843 (1996) (0)
Abstracts of papers presented at the annual meeting, canadian anaesthetists’ society, june 13-17, 1981 (1981) (0)
Cloning and Expression of Mutations Demonstrating Intragenic Complementation in mut° Methylmalonic Aciduria (2013) (0)
Screening for somatic mutations of the neurofibromatosis genes in central nervous system and other solid tumours (1994) (0)
Utilization and Loss of Reduced Folates by Human Fibroblasts in Vitro (1983) (0)
Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting. (2020) (0)
Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency (2000) (0)
Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine (1995) (0)
New Compounds. 2,2-Dimethyl-5-dimethylammonium-1,3-benzodioxole Iodide and 2,2-Dimethyl-5-trimethylammonium-1,3-benzodioxole Iodide (1952) (0)
Vitamins: cobalamin and folate (2020) (0)
Abstracts for the Congress in Goettingen, 19–20 February 2009 (2008) (0)
NEONATAL MEGALOBLASTIC ANEMIA CAUSED BY AN INHERITED DEFECT IN THE METHIONINE SYNTHETASE REACTION IN VIVO (1985) (0)
Biochemical and Molecular Roles of nutrients Mitochondrial NADH-or NADPH-Linked Aquacobalamin ReducÃ-ase Activity Is Low in Human Skin Fibroblasts with Defects in Synthesis of Cobalamin Coenzymes 1 (2006) (0)
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients (2018) (0)
List of contributors. (2019) (0)
[A molecular study of methylmalonic aciduria: structure-function correlations]. (1996) (0)
Molecular analysis of a woman with late onset cystic fibrosis. (1990) (0)
Victor McKusick and the History of Medical Genetics (2013) (0)
Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism (2021) (0)
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 (2022) (0)
118. Identification of a novel lysosomal membrane protein mutated in the Cbl F defect of vitamin B12 metabolism (2009) (0)
863 DIFFERENTIAL EFFECTS OF FOLINIC ACID (FA) AND GLYCINE, ADENOSINE, THYMIDINE (GAT) ON METHOTREXATE (MTX) TOXICITY IN CULTURED HUMAN CELLS (1981) (0)
MULTIPLE ALLELES IN METHYLENETRAHYDROFOLATE REDUCTASE DEFICIENCY (1977) (0)
853 METHYLMALONIC ACIDURIA ASSOCIATED WITH FAILURE OF LYSOSOMAL RELEASE OF VITAMIN B12 (1985) (0)
PRENATAL VITAMIN B12 TREATMENT OF A FETUS AT RISK FOR METHYLCOBALAMIN DEFICIENCY (1986) (0)
The molecular basis of glutamate formiminotransferase deficiency (2003) (0)
Confounding factors in identification of disease-resilient individuals (2016) (0)
“Complex” receptor for vitamin B12-intrinsic factor (2004) (0)
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2019) (0)
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients (2018) (0)
METHYLCOBALAMIN DEFICIENCY (1984) (0)
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis. (2022) (0)
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause (2020) (0)
854 FOLIC ACIO BLINDED TRIAL IN IDENTICAL TWINS WITH FRAGILE X SYNDROME (1985) (0)
Brighter prospects for academic medicine. (1992) (0)
Synthesis of methotrexate polyglutamates in l1210 mouse leukemic cells and in human diploid fibroblasts in culture. Abstr. (1977) (0)
VITAMIN B12–RESPONSIVE MEGALOBLASTIC AMEMIA AND HOMOCYSTINURIA: DESCRIPTION OF TWO COMPLEMENTATION CLASSES, cblE AND cblG (1987) (0)

This paper list is powered by the following services:

Other Resources About David S Rosenblatt

en.wikipedia.org

What Schools Are Affiliated With David S Rosenblatt?

David S Rosenblatt is affiliated with the following schools:

Image Attributions

Image Source for David S Rosenblatt