Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency
Our work revealed that C4 + C5 summation should be used as the auxiliary quantization indicator to reduce false-positive results for PCD.
Authors
- Lili Liang (ORCID: https://orcid.org/0000-0002-7610-9825)
- Siyu Chang
- Wenjuan Qiu (ORCID: https://orcid.org/0000-0002-8145-181X)
- Xuefan Gu (ORCID: https://orcid.org/0000-0002-8594-8911)
- Ting Chen (ORCID: https://orcid.org/0000-0002-5777-909X)
- Huiwen Zhang (ORCID: https://orcid.org/0000-0002-8241-325X)
- Lianshu Han (ORCID: https://orcid.org/0000-0003-4890-1951)
- Huang Zhi (ORCID: https://orcid.org/0009-0006-1902-1495)
Institutions
- XinHua Hospital (CN)
Publication Details
- Journal
- International Journal of Neonatal Screening
- Published
- 2025-06-19
- DOI
- https://doi.org/10.3390/ijns11020047
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32
Funders
- Shanghai Municipal Health Commission
- National Key Research and Development Program of China