Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of v...

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Bibliographische Detailangaben
Veröffentlicht in:J Korean Med Sci
Hauptverfasser: Choe, Jae Young, Jang, Kyung Mi, Min, So Yoon, Hwang, Su-Kyeong, Kang, Ben, Choe, Byung-Ho
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2019
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900407/
https://ncbi.nlm.nih.gov/pubmed/31808324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2019.34.e303
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