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.
Authors
- Kimitoshi Nakamura (ORCID: https://orcid.org/0000-0001-6659-4145)
- Keiko Ichimoto (ORCID: https://orcid.org/0000-0002-7152-6240)
- Takahito Inoue (ORCID: https://orcid.org/0000-0002-3498-5245)
- Ohsuke Migita
- Ryosuke Bo (ORCID: https://orcid.org/0000-0002-8931-7842)
- Toju Tanaka (ORCID: https://orcid.org/0000-0002-6065-8344)
- Hiromi Nyuzuki (ORCID: https://orcid.org/0000-0003-1502-0875)
- Takanori Onuki (ORCID: https://orcid.org/0000-0001-7798-2100)
- Torayuki Okuyama (ORCID: https://orcid.org/0000-0003-3004-1412)
- Hideo Sasai (ORCID: https://orcid.org/0000-0001-7704-6259)
- Makiko Tajika (ORCID: https://orcid.org/0000-0001-6975-7712)
- Takashi Hamazaki (ORCID: https://orcid.org/0000-0003-2968-8569)
- Yohei Sugiyama (ORCID: https://orcid.org/0000-0002-4693-4584)
- Kei Murayama (ORCID: https://orcid.org/0000-0002-3923-8636)
- Norio Sakai (ORCID: https://orcid.org/0000-0003-3374-6709)
- Tetsuya Ito
- Motomichi Kosuga
- Masaru Shimura
- Junpei Hamada
Institutions
- 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)
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
Funders
- Ministry of Health, Labour and Welfare