Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

Carnitine palmitoyl transferase (CPT) 1 A deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. CPT1 deficiency is included in newborn screening programs in a number of countries to allow presymptomatic detection and early treatment of affected patients. We present a case of pres...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Borch, Luise, Lund, Allan Meldgaard, Wibrand, Flemming, Christensen, Ernst, Søndergaard, Charlotte, Gahrn, Birthe, Hougaard, David Michael, Andresen, Brage Storstein, Gregersen, Niels, Olsen, Rikke Katrine Jentoft
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509854/
https://ncbi.nlm.nih.gov/pubmed/23430868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_35
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados