A carregar...

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

Disorders of intracellular cobalamin (vitamin B(12)) metabolism result from deficient synthesis of the coenzymes derived from vitamin B(12): adenosylcobalamin and methylcobalamin. Disturbances of cobalamin-cofactor synthesis result in elevated levels of homocysteine and/or methylmalonic acid. Nine d...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Atkinson, Celia, Miousse, Isabelle R., Watkins, David, Rosenblatt, David S., Raiman, Julian A. J.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4241196/
https://ncbi.nlm.nih.gov/pubmed/25155779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_340
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!