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

• Egile Nagusiak: Nobuyuki Shimozawa (Egilea), Shigeo Takashima (Egilea), Hiroki Kawai (Egilea), Kazuo Kubota (Egilea), Hideo Sasai (Egilea), Kenji Orii (Egilea), Megumi Ogawa (Egilea), Hidenori Ohnishi (Egilea)
• Formatua: Liburua
• Argitaratua: MDPI AG, 2021-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

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...