Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit–Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan
< 0.0001; Cohen's d = 0.912). These findings support NICU-specific reference ranges, hematology-informed interpretations, repeat testing after maturation, and the use of second-tier biomarkers for ASMD NBS implementation in Japan.
Authors
- Hirokazu Arai (ORCID: https://orcid.org/0000-0002-1415-4831)
- Akie Kato
- Atsuko Noguchi (ORCID: https://orcid.org/0000-0002-5627-4217)
- Hiroyuki Adachi (ORCID: https://orcid.org/0000-0002-0890-718X)
- Kiichi Takahashi (ORCID: https://orcid.org/0000-0003-3477-2052)
- Tomoo Ito
- Shōzō Ōta
- Masato Ito
Institutions
- Akita University (JP)
- Akita Red Cross Hospital (JP)
Publication Details
- Journal
- International Journal of Neonatal Screening
- Published
- 2026-04-01
- DOI
- https://doi.org/10.3390/ijns12020022
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00