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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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Detalles Bibliográficos
Autores principales: Shimozawa, Nobuyuki, Takashima, Shigeo, Kawai, Hiroki, Kubota, Kazuo, Sasai, Hideo, Orii, Kenji, Ogawa, Megumi, Ohnishi, Hidenori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395936/
https://www.ncbi.nlm.nih.gov/pubmed/34449525
http://dx.doi.org/10.3390/ijns7030058