T. Chu

发表

Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes

Chih-jou Lai, D. Niu, An‐Guor Wang, 2017, Journal of the Chinese Medical Association : JCMA.

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

Yen-Yin Chou, Hsiang-Yu Lin, Shuan-Pei Lin, 2021, Journal of personalized medicine.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Chih-ping Chen, Hsi-Che Liu, Hsiang-Yu Lin, 2016, Molecular genetics and metabolism.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Wen-Chung Yu, R. Desnick, Hsiang-Yu Lin, 2016, Journal of the American College of Cardiology.

Very rare condition of multiple Gaucheroma: A case report and review of the literature

W. Soong, Y. Yeh, D. Niu, 2019, Molecular genetics and metabolism reports.

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

W. Soong, Chih-jou Lai, D. Niu, 2016, The Journal of pediatrics.

Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

Wen-Chung Yu, S. Sung, D. Niu, 2017, International journal of molecular sciences.

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation

C. Tiu, Wen-Chung Yu, S. Hung, 2017, BMC Neurology.

Phenotypic spectrum of 45,X/46,XY individuals.

J. Opitz, A. Vianna-Morgante, C. Rosenberg, 1987, American journal of medical genetics.

Testicular regression in a patient with virilized female phenotype.

C. Rosenberg, Z. Mustacchi, T. Chu, 1984, American journal of medical genetics.

Very rare condition of multiple Gaucheroma: A case report and review of the literature☆

W. Soong, Y. Yeh, D. Niu, 2019, Molecular genetics and metabolism reports.

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

Yen-Yin Chou, P. Su, Hsiang-Yu Lin, 2021, Journal of Personalized Medicine.

H-Y antigen generating and receptor systems in abnormal sexual development.

A. Vianna-Morgante, C. Moreira-Filho, H. Bisi, 1982, American journal of medical genetics.

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

M. Ho, Y. Chien, W. Hwu, 2019, Orphanet Journal of Rare Diseases.

When is the best time to start enzyme replacement therapy in patients with cardiac-type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype

Wen-Chung Yu, S. Sung, D. Niu, 2015 .

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.

W. Soong, Chih-jou Lai, D. Niu, 2016, The Journal of pediatrics.

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

Wen-Chung Yu, R. Desnick, Hsiang-Yu Lin, 2016, Journal of the American College of Cardiology.