In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Touw, Catharina ML, Smit, G Peter A, Niezen-Koning, Klary E, Boer, Conny Bosgraaf-de, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry GJ
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3610156/
https://ncbi.nlm.nih.gov/pubmed/23509891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-43
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki