Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

In Japan, Expanded NBS for LSDs and ALD has become more widespread. Since its implementation, some patients have been diagnosed and received treatment. However, challenges such as pseudodeficiency, indications, testing methods, and VUS that require improvement.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-07-24
DOI
https://doi.org/10.1186/s13023-025-03848-4
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

Kimitoshi Nakamura, Keiko Ichimoto, Takahito Inoue, Ohsuke Migita et al.
Orphanet Journal of Rare Diseases
Lysosomal Storage Disorders Research
article

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy

Kimitoshi Nakamura, Keiko Ichimoto, Takahito Inoue, Ohsuke Migita, Ryosuke Bo, Toju Tanaka, Hiromi Nyuzuki, Takanori Onuki, Torayuki Okuyama, Hideo Sasai, Makiko Tajika, Takashi Hamazaki, Yohei Sugiyama, Kei Murayama, Norio Sakai, Tetsuya Ito, Motomichi Kosuga, Masaru Shimura, Junpei Hamada
article en

Abstract

In Japan, Expanded NBS for LSDs and ALD has become more widespread. Since its implementation, some patients have been diagnosed and received treatment. However, challenges such as pseudodeficiency, indications, testing methods, and VUS that require improvement.

Orphanet Journal of Rare DiseasesVol. 20(1)
Fujita Health University (JP), St. Marianna University School of Medicine (JP), Fukuoka University (JP), Juntendo University (JP), National Hospital Organization Hokkaido Medical Center (JP), National Center For Child Health and Development (JP), Chiba Hospital (JP), Gifu University (JP), Ehime University (JP), Kobe University (JP), Tokyo Metropolitan University (JP), Niigata University (JP), Saitama Medical University (JP), Kumamoto University (JP)
Ministry of Health, Labour and Welfare
Good health and well-being
Openalex Percentile: Top 76%
Lysosomal Storage Disorders Research
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