Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common <i>PCCB</i> 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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Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	MDPI AG 2021-06-01
Rangatū:	International Journal of Neonatal Screening
Ngā marau:	propionic acidemia tandem mass spectrometry propionylcarnitine cardiomyopathy QT prolongation
Urunga tuihono:	https://www.mdpi.com/2409-515X/7/3/35
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!