Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD)
The incidence of SCADD in Zhejiang is 1 in 52,448, with c.1031 A > G and c.164C > T as the most frequent ACADS variants; and most screen-detected SCADD cases remain asymptomatic.
Authors
- Yanhua Xu (ORCID: https://orcid.org/0000-0002-2483-7695)
- Xinwen Huang (ORCID: https://orcid.org/0000-0002-2799-9155)
- Benqing Wu
- Duo Zhou
- Chen Liu
- Chi Chen
- GuLing Qian
Institutions
- Children's Hospital of Zhejiang University (CN)
- Shenzhen Children's Hospital (CN)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-02-10
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101292
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00