Yin‐hsiu Chien - Genetic Mutations

Author Information

Dr. Yin-hsiu Chien is affiliated with the Department of Medical Genetics at the National Taiwan University Hospital in Taipei, Taiwan. Dr. Chien has made significant contributions to the field of genetics, particularly in the study of genetic disorders and their treatments.

Research Contributions

Dr. Yin-hsiu Chien has an extensive body of work, focusing on various genetic disorders including Pompe disease, Duchenne Muscular Dystrophy, Jansen-de Vries syndrome, Gaucher disease, and 22q11.2 Deletion Syndrome. In 2022 alone, Dr. Chien has published multiple papers exploring the immunogenicity, safety, and efficacy of enzyme replacement therapies, as well as novel strategies for metabolic and nutritional management in genetic disorders. Notable studies include the phase III, randomized study on cipaglucosidase alfa/miglustat in late-onset Pompe disease and the Mini-COMET study on avalglucosidase alfa in infantile-onset Pompe disease.

Aliases

Yin-hsiu Chien is also known by several aliases in academic publications, including Y. Chien, Y.-h. Chien, Y. H. Chien, and Yin Hsiu Chien. These variations often appear in different journals and databases.

Publication and Citation Metrics

Metric Value
Citation Count 7207
H-index 42
Paper Count 357

Publications:

DOI: 10.1038/s41598-022-05833-4

Year: 2022

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