Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom
This article summarizes the clinical data of a case of HLCSD in an infant, primarily presenting with respiratory symptoms. It provides a comprehensive summary of the etiology, diagnosis, and treatment, offering insights for the diagnosis of rare diseases by clinical physicians.
Authors
- Haiying Zou
- Yu Qin (ORCID: https://orcid.org/0000-0002-8973-8540)
- Renlong Zhang (ORCID: https://orcid.org/0000-0003-0394-7649)
- Li Yang (ORCID: https://orcid.org/0000-0001-8199-8527)
Institutions
- Jiangxi Provincial Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-11-20
- DOI
- https://doi.org/10.3389/fgene.2024.1439343
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00