Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant

Propionic acidemia (PA) is a disorder of organic acid metabolism which typically presents with acute encephalopathy-like symptoms associated with metabolic acidosis and hyperammonemia during the neonatal period. The estimated incidence of symptomatic PA in Japan is 1/400,000. The introduction of neo...

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Detalhes bibliográficos
Publicado no:Int J Neonatal Screen
Main Authors: Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293189/
https://ncbi.nlm.nih.gov/pubmed/34203287
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7030035
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