Hsiao-jan Chen
TPQ, Taiwan
Last Updated: 09/26/2026
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Found 23 publications
Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 03, 2025
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan.
Journal: Orphanet journal of rare diseases
Published: November 26, 2024
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2024
Multiplex Lysosomal Enzyme Activity Assay on Dried Blood Spots Using Tandem Mass Spectrometry.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: September 20, 2022
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Journal: International journal of molecular sciences
Published: August 01, 2022
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Journal: International journal of neonatal screening
Published: June 15, 2022
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
Journal: Journal of personalized medicine
Published: June 07, 2022
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
Journal: Diagnostics (Basel, Switzerland)
Published: August 02, 2021
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan.
Journal: Data in brief
Published: April 25, 2019
Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 17, 2019
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.
Journal: The Journal of pediatrics
Published: April 28, 2018
Last Updated: 09/26/2026