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Changes in cobalamin metabolism are associated with the altered methionine auxotrophy of highly growth autonomous human melanoma cells.
- Published in:
- Journal of Cellular Physiology, 1991, v. 149, n. 2, p. 332, doi. 10.1002/jcp.1041490222
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- Publication type:
- Article
Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate.
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- Journal of Perinatology, 2003, v. 23, n. 5, p. 384, doi. 10.1038/sj.jp.7210955
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- Publication type:
- Article
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27759-7
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- Publication type:
- Article
CANADIAN PIONEERS: Charles Robert Scriver / PIONNIERS CANADIENS : Charles Robert Scriver.
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- Genome, 2008, v. 51, n. 5, p. iii, doi. 10.1139/g08-900
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- Publication type:
- Article
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1309, doi. 10.1007/s00439-021-02414-9
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- Publication type:
- Article
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27759-7
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- Publication type:
- Article
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1124, doi. 10.1002/ajmg.a.62627
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- Publication type:
- Article
Confounding factors in identification of disease-resilient individuals.
- Published in:
- Nature Biotechnology, 2016, v. 34, n. 11, p. 1103, doi. 10.1038/nbt.3684
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- Publication type:
- Article
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
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- Publication type:
- Article
Expression of transcobalamin II by amniocytes.
- Published in:
- 1987
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- Publication type:
- journal article
Cultured Human Fibroblasts and Plasma Membrane Vesicles to Investigate Transport Function and the Effects of Genetic Mutation<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1985, v. 456, n. 1, p. 401, doi. 10.1111/j.1749-6632.1985.tb14891.x
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- Publication type:
- Article
Severe Methylenetetrahydrofolate Reductase Deficiency Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 7, p. 901, doi. 10.1001/jamaneurol.2014.116
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- Publication type:
- Article
Inherited disorders of vitamin B<sub>12</sub> utilization.
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- BioEssays, 1990, v. 12, n. 7, p. 331, doi. 10.1002/bies.950120705
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- Publication type:
- Article
Clinical correlates of subnormal vitamin B12 levels in patients infected with the human immunodeficiency virus.
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- American Journal of Hematology, 1995, v. 49, n. 4, p. 318, doi. 10.1002/ajh.2830490410
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- Publication type:
- Article
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.
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- American Journal of Hematology, 1990, v. 34, n. 2, p. 115, doi. 10.1002/ajh.2830340207
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- Publication type:
- Article
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 157, doi. 10.1002/jimd.12448
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- Publication type:
- Article
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1969, doi. 10.1093/hmg/ddaa027
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- Publication type:
- Article
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
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- Human Molecular Genetics, 2017, v. 26, n. 15, p. 2838, doi. 10.1093/hmg/ddx157
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- Publication type:
- Article
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
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- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4591, doi. 10.1093/hmg/ddt308
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- Publication type:
- Article
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.
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- Mammalian Genome, 2002, v. 13, n. 5, p. 259, doi. 10.1007/s00335-001-3054-2
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- Publication type:
- Article
Vitamin B<sub>12</sub> Metabolism during Pregnancy and in Embryonic Mouse Models.
- Published in:
- 2013
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- Publication type:
- Journal Article
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.
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- British Journal of Haematology, 2003, v. 123, n. 5, p. 915, doi. 10.1046/j.1365-2141.2003.04685.x
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- Publication type:
- Article
Local Cerebral Glucose Utilization in Two Models of B<sub>12</sub> Deficiency.
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- Journal of Neurochemistry, 1983, v. 40, n. 4, p. 1155, doi. 10.1111/j.1471-4159.1983.tb08107.x
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- Publication type:
- Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
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- Publication type:
- Article
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
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- Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
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- Publication type:
- Article
Exome and whole-genome sequencing for gene discovery: The future is now!
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- Human Mutation, 2012, v. 33, n. 4, p. 591, doi. 10.1002/humu.22055
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- Publication type:
- Article
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
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- Human Mutation, 2009, v. 30, n. 7, p. 1072, doi. 10.1002/humu.21001
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- Publication type:
- Article
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene ( MCEE).
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- Human Mutation, 2007, v. 28, n. 10, p. 1045, doi. 10.1002/humu.9507
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- Publication type:
- Article
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
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- Human Mutation, 2007, v. 28, n. 10, p. 1028, doi. 10.1002/humu.20563
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- Publication type:
- Article
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
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- Human Mutation, 2006, v. 27, n. 1, p. 31, doi. 10.1002/humu.20258
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- Publication type:
- Article
Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B<sub>12</sub> Metabolism.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 317, doi. 10.1002/humu.20149
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- Publication type:
- Article
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B<sub>12</sub> metabolism.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 509, doi. 10.1002/humu.20104
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- Publication type:
- Article
Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice.
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- Human Molecular Genetics, 2006, v. 15, n. 23, p. 3387, doi. 10.1093/hmg/ddl415
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- Publication type:
- Article
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
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- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3361, doi. 10.1093/hmg/11.26.3361
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- Publication type:
- Article
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.
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- Annals of Neurology, 2001, v. 49, n. 3, p. 396, doi. 10.1002/ana.78
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- Publication type:
- Article
Predictive value of apolipoprotein E genotyping in Alzheimer's disease: Results of an autopsy series and an analysis of several combined studies.
- Published in:
- Annals of Neurology, 1994, v. 36, n. 6, p. 889, doi. 10.1002/ana.410360614
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- Article
The molecular basis of glutamate formiminotransferase deficiencyCommunicated by R. Garry Cutting.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236
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- Publication type:
- Article
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutationCommunicated by Jan P. Kraus.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193
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- Publication type:
- Article
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I
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- Publication type:
- Article
Seven novel mutations in mut methylmalonic aciduria.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 270, doi. 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T
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- Publication type:
- Article
A common mutation among blacks with mut.
- Published in:
- Human Mutation, 1998, v. 11, p. S248, doi. 10.1002/humu.1380110179
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- Publication type:
- Article
Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations.
- Published in:
- Human Mutation, 1997, v. 9, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E
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- Publication type:
- Article
Identification of two mutant alleles of transcobalamin II in an affected family.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1835
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- Publication type:
- Article