Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses. In particular, since the only treatment for the...

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Autores principales:	Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	MDPI AG 2021-08-01
Colección:	International Journal of Neonatal Screening
Materias:	peroxisomal disorders adrenoleukodystrophy newborn screening very-long-chain fatty acids plasmalogen phytanic acid
Acceso en línea:	https://www.mdpi.com/2409-515X/7/3/58
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