Inherited defects of cobalamin metabolism.

5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics Amino Acid Metabolism, Inborn Errors Coenzymes Homocystinuria / genetics Humans Male Methylmalonyl-CoA Mutase / genetics Oxidoreductases / genetics Repressor Proteins Trans-Activators Vitamin B 12 / metabolism
Cobalamin Homocysteine Inborn errors Inherited metabolic disease Methylmalonic acid Vitamin B12

Journal

Vitamins and hormones
ISSN: 0083-6729
Titre abrégé: Vitam Horm
Pays: United States
ID NLM: 0413601

Informations de publication

Date de publication:
2022
Historique:
entrez: 26 3 2022
pubmed: 27 3 2022
medline: 19 4 2022
Statut: ppublish

Résumé

Cobalamin (vitamin B

Identifiants

DOI: 10.1016/bs.vh.2022.01.010 PMID: 35337626
pubmed: 35337626
pii: S0083-6729(22)00010-3
doi: 10.1016/bs.vh.2022.01.010
pii:
doi:

Substances chimiques

Coenzymes 0
Repressor Proteins 0
THAP11 protein, human 0
Trans-Activators 0
ZNF143 protein, human 0
MMACHC protein, human EC 1.-
Oxidoreductases EC 1.-
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase EC 2.1.1.13
Methylmalonyl-CoA Mutase EC 5.4.99.2
Vitamin B 12 P6YC3EG204

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

355-376

Informations de copyright

Copyright © 2022 Elsevier Inc. All rights reserved.

Auteurs

David Watkins (D)

Department of Human Genetics, McGill University, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada. Electronic address: david.watkins@mcgill.ca.

David S Rosenblatt (DS)

Department of Human Genetics, McGill University, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › One-carbon group transferases › Methyltransferases › 5-Methyltetrahydrofolate-homocysteine s-methyltransferase › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Aminoacidopathies congénitales › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Enzymes et coenzymes › Coenzymes › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Homocystinurie › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Isomerases › Intramolecular transferases › Methylmalonyl-coA mutase › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines virales › Protéines virales régulatrices ou accessoires › Transactivateurs › Inherited defects of cobalamin metabolism.
questionsmedicales.fr › Composés polycycliques › Composés macrocycliques › Tétrapyrroles › Corrinoïdes › Vitamine B12 › Inherited defects of cobalamin metabolism.