Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids
Our findings highlight NICCD metabolic enrichment in energy and amino acid pathways and present an interpretable ML model for distinguishing NICCD from those of NAG.
Authors
- Ziyan Cen
- Pei‐Chun Chen (ORCID: https://orcid.org/0000-0002-8713-8816)
- Qimin He (ORCID: https://orcid.org/0000-0001-8262-1035)
- Yu Zhang (ORCID: https://orcid.org/0000-0003-3630-9002)
- Peiyao Wang (ORCID: https://orcid.org/0000-0002-2473-8777)
- Xinjie Yang
- Xinwen Huang (ORCID: https://orcid.org/0000-0002-2799-9155)
- Benqing Wu (ORCID: https://orcid.org/0000-0003-4126-7468)
Institutions
- Suzhou University of Science and Technology (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Children's Hospital of Zhejiang University (CN)
- Hangzhou DAC Biotech (China) (CN)
- Shenzhen Children's Hospital (CN)
- Intelligent Health (United Kingdom) (GB)
Publication Details
- Journal
- Clinical and Translational Medicine
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1002/ctm2.70467
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00