Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
Early clinical features such as hyperuricemia, hypotonia, and motor delay may suggest LNS in infancy. Molecular genetic testing, particularly whole exome sequencing, can facilitate an early diagnosis before specific manifestations occur, enabling timely interventions and improving patient outcomes.
Authors
- Hui-Ju Chen (ORCID: https://orcid.org/0000-0001-9625-2306)
- Hsiang‐Yu Lin (ORCID: https://orcid.org/0000-0002-9619-0990)
- Yuan-Rong Tu
- Chung‐Lin Lee (ORCID: https://orcid.org/0000-0001-8178-6938)
- Hung‐Hsiang Fang (ORCID: https://orcid.org/0000-0001-5652-8486)
- Chih‐Kuang Chuang (ORCID: https://orcid.org/0000-0001-9776-2092)
- Huei‐Ching Chiu
- Yun‐Ting Lo
- Ya-Hui Chang (ORCID: https://orcid.org/0000-0003-3321-0357)
Institutions
- Fu Jen Catholic University (TW)
- Tri-Service General Hospital (TW)
- National Yang Ming Chiao Tung University (TW)
- China Medical University (TW)
- National Taipei University of Nursing and Health Science (TW)
- Mackay Memorial Hospital (TW)
- Mackay Medical University (TW)
- China Medical University Hospital (TW)
- Mackay Junior College of Medicine, Nursing and Management (TW)
- National Defense Medical Center (TW)
Publication Details
- Journal
- Diagnostics
- Published
- 2024-12-13
- DOI
- https://doi.org/10.3390/diagnostics14242809
- Citations
- 3
- Primary Topic
- Biochemical and Molecular Research
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Mackay Memorial Hospital
- National Science and Technology Council