Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

Abstract Background Recently, Newborn screening (NBS) has been expanded worldwide to include lysosomal storage diseases (LSDs) and adrenoleukodystrophy (ALD) due to the importance of early diagnosis and early treatment. In Japan, NBS for LSDs, termed expanded NBS, was first implemented in Kumamoto p...

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Detalhes bibliográficos

Principais autores:	Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka, Hiromi Nyuzuki, Motomichi Kosuga, Ohsuke Migita, Tetsuya Ito, Hideo Sasai, Ryosuke Bo, Junpei Hamada, Takashi Hamazaki, Norio Sakai, Takahito Inoue, Kimitoshi Nakamura, Torayuki Okuyama, Kei Murayama
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-07-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Newborn screening NBS Lysosomal storage disease LSD Adrenoleukodystrophy ALD
Acesso em linha:	https://doi.org/10.1186/s13023-025-03848-4
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