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

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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Bibliographic Details
Main Authors: Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Neonatal Screening
Subjects:
peroxisomal disorders
adrenoleukodystrophy
newborn screening
very-long-chain fatty acids
plasmalogen
phytanic acid
Online Access:https://www.mdpi.com/2409-515X/7/3/58

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https://www.mdpi.com/2409-515X/7/3/58

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