Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

BACKGROUND: The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the heterogeneous clinical picture, patients with the late-onset form of the disease (o...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255922/
https://ncbi.nlm.nih.gov/pubmed/25398587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0161-1
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires