Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity

Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic...

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Główni autorzy:	Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Format:	Artigo
Język:	Inglês
Wydane:	MDPI AG 2023-10-01
Seria:	International Journal of Neonatal Screening
Hasła przedmiotowe:	carnitine palmitoyltransferase II deficiency CPT2 newborn screening false-positive tetradecanoylcarnitine (C14) dodecanoylcarnitine (C12)
Dostęp online:	https://www.mdpi.com/2409-515X/9/4/62
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