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)...

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Detalles Bibliográficos
Autores principales: Wang, Yanyun, Sun, Yun, Jiang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110811/
https://www.ncbi.nlm.nih.gov/pubmed/30186825
http://dx.doi.org/10.3389/fped.2018.00233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110811/
https://www.ncbi.nlm.nih.gov/pubmed/30186825
http://dx.doi.org/10.3389/fped.2018.00233

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