Hui-an Chen
TPQ, Taiwan
Last Updated: 09/26/2026
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Found 19 publications
Cognitive development in children with Prader-Willi syndrome receiving early growth hormone therapy.
Cognitive development in children with Prader-Willi syndrome receiving early growth hormone therapy.
Journal: Pediatrics and neonatology
Published: January 02, 2026
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.
Journal: Neurology. Genetics
Published: October 31, 2025
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Journal: Human molecular genetics
Published: October 07, 2025
Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.
Journal: Molecular genetics & genomic medicine
Published: October 03, 2025
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Journal: Molecular genetics & genomic medicine
Published: May 02, 2025
Machine learning to predict mitochondrial diseases by phenotypes.
Journal: Mitochondrion
Published: April 04, 2025
Double-outlet right ventricle in a patient with Takenouchi-Kosaki syndrome.
Journal: Pediatrics and neonatology
Published: July 23, 2024
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Journal: EBioMedicine
Published: July 09, 2024
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 10, 2024
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report.
Journal: Molecular genetics and metabolism reports
Published: January 14, 2024
Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.
Journal: Frontiers in immunology
Published: November 14, 2023
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.
Journal: Molecular genetics and metabolism reports
Published: November 11, 2023
Last Updated: 09/26/2026