Found: 8
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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
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- Publication type:
- Article
Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
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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
Secondary NAD deficiency in the inherited defect of glutamine synthetase.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1075, doi. 10.1007/s10545-015-9846-4
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- Publication type:
- Article
A novel mutation in LMBRD1 causes the cblF defect of vitamin B<sub>12</sub> metabolism in a Turkish patient.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 17, doi. 10.1007/s10545-009-9032-7
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- Publication type:
- Article
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1410, doi. 10.1093/hmg/ddr579
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- Publication type:
- Article
Verification of effective Zika virus reduction by production steps used in the manufacture of plasma-derived medicinal products.
- Published in:
- 2017
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- Publication type:
- Letter
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1072, doi. 10.1002/humu.21001
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- Publication type:
- Article