Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations

Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations

Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in unrecognized patients, additionally late diagnosis leads to severe developmental delay and neurol...

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Main Authors: Deniz Kör, Berna Şeker-Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Murat Öktem, Serdar Ceylaner, Dinçer Yıldızdaş, Neslihan Önenli-Mungan
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2019-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
PCCA
PCCB
Propionic acidemia
clinical features
novel mutation
Online Access:https://turkjpediatr.org/article/view/699
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