Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

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...

Full description

Saved in:
Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Newborn screening
NBS
Lysosomal storage disease
LSD
Adrenoleukodystrophy
ALD
Online Access:https://doi.org/10.1186/s13023-025-03848-4
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s13023-025-03848-4

Similar Items