Peer-reviewedCC BYDiagnostics (Basel, Switzerland)
Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan
4 affiliations
- 1Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan; (C.-L.L.); (Y.-H.C.); (H.-C.C.)
- 2Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 104217, Taiwan; (C.-K.C.); (Y.-R.T.)
- 3International Rare Disease Centre, MacKay Memorial Hospital, Taipei 104217, Taiwan; (Y.-T.L.); (J.-Y.W.)
- 4Department of Nursing, MacKay Memorial Hospital, Taipei 104217, Taiwan;
Related
- Molecular overlap between primary immune thrombocytopenia and inherited platelet disorders: A pediatric case report with a novel heterozygous ITGB3 variant identified by next-generation sequencing
- Developing a rare disease registry for inherited metabolic disorders in Pakistan
- Human induced pluripotent stem cells and organoid models in space for investigating severe pediatric metabolic and congenital disorders.
- OP–174 Profoundly accelerated immune aging in inherited metabolic diseases: immunophenotypic evidence from seven cases
- PO034 | ASSESSMENT OF PLATELET AGGREGATION FOR THE DIAGNOSIS OF INHERITED PLATELET DISORDERS USING A FULLY AUTOMATED COAGULATION ANALYSER: COMPARISON WITH LTA AND MEA
BibTeX
@article{lee2026multilocus,
title = {{Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan}},
author = {Chung-Lin Lee and Ya-Hui Chang and Chih-Kuang Chuang and Huei-Ching Chiu and Yuan-Rong Tu and Yun-Ting Lo and Jun-Yi Wu and Huang-Ying Huang and Hsiang-Yu Lin and Shuan-Pei Lin},
journal = {Diagnostics (Basel, Switzerland)},
year = {2026},
month = oct,
url = {https://europepmc.org/article/PMC/PMC13703565},
note = {CC BY},
}
RIS
TY - JOUR
TI - Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan
AU - Chung-Lin Lee
AU - Ya-Hui Chang
AU - Chih-Kuang Chuang
AU - Huei-Ching Chiu
AU - Yuan-Rong Tu
AU - Yun-Ting Lo
AU - Jun-Yi Wu
AU - Huang-Ying Huang
AU - Hsiang-Yu Lin
AU - Shuan-Pei Lin
PY - 2026
DA - 2026/10/01
JO - Diagnostics (Basel, Switzerland)
UR - https://europepmc.org/article/PMC/PMC13703565
SN - 2075-4418
ER -