Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics
MS/MS combined with genetic testing could effectively enhance the diagnostic accuracy of PCD. Our study identified four novel mutations, expanding the variant spectrum of the SLC22A5 gene.
Authors
- Haili Hu (ORCID: https://orcid.org/0009-0008-8390-406X)
- Yan Wang (ORCID: https://orcid.org/0000-0002-6641-6004)
- Hongyu Xu (ORCID: https://orcid.org/0000-0003-1233-2830)
- Wangsheng Song
- Qingqing Ma (ORCID: https://orcid.org/0000-0002-6775-7695)
Institutions
- Anhui Medical University (CN)
- Anhui Provincial Children's Hospital (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1186/s13052-025-01911-1
- Citations
- 4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.27