A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel

Background: Propionic acidemia (PA) is an extremely rare autosomal recessive disorder which is caused by the deficiency of propionyl-CoA carboxylase (PCC) and associated with pathogenic variants in PCCA or PCCB gene.Case Report: Detection of PA in neonates is possible using Propionyl carnitine (C3)...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Yanyun Wang, Yun Sun, Tao Jiang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018-08-01
Colecção:Frontiers in Pediatrics
Assuntos:
Propionic academia (PA)
PCCA gene
tandem mass spectrometry (MS/MS)
urine gas chromatography mass spectrometry (GC/MS)
Genetic diagnosis panel
Acesso em linha:https://www.frontiersin.org/article/10.3389/fped.2018.00233/full
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados