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Publications by Yin-Hsiu Chien

In This Issue

Genetics in Medicine
MedicineGenetics
2013English

Primary Coenzyme Q10 Deficiency-7: Expanded Phenotypic Spectrum and a Founder Mutation in Southern Chinese

npj Genomic Medicine
GeneticsMolecular Biology
2019English

Computational Analysis of a Novel Mutation in ETFDH Gene Highlights Its Long-Range Effects on the FAD-binding Motif

BMC Structural Biology
Structural Biology
2011English

Differences in the Predominance of Lysosomal and Autophagic Pathologies Between Infants and Adults With Pompe Disease: Implications for Therapy

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2010English

Erratum To: A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations

Molecular Medicine
Molecular MedicineGeneticsMolecular Biology
2012English

Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease

PLoS ONE
Multidisciplinary
2013English

Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients With Infantile- And Late-Onset Pompe Disease Identified by Newborn Screening

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2014English

Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2014English

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