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The Journal of Pediatrics|December 20, 2015
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better OutcomesChia-Feng Yang, Chen Chang Yang, Hsuan-Chieh Liao, et al.Pediatric Transplantation|January 17, 2022
Safety and long-term outcomes of early liver transplantation for pediatric methylmalonic acidemia patientsNiang-Cheng Lin, Hsin-Lin Tsai, Cheng-Yen Chen, et al.American Journal of Hematology|February 19, 2021
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life dataMajdolen Istaiti, Shoshana Revel-Vilk, Michal Becker-Cohen, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 12, 2014
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in TaiwanHsuan-Chieh Liao, Chuan-Chi Chiang, Dau-Ming Niu, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|November 9, 2011
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspotsChang-Long Tai, Mei-Ying Liu, Hsiao-Chi Yu, et al.Journal of Personalized Medicine|November 27, 2021
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann SyndromeHsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.Orphanet Journal of Rare Diseases|April 4, 2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groupsTzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, et al.Orphanet Journal of Rare Diseases|July 2, 2014
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A)Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, et al.Journal of the Chinese Medical Association : JCMA|March 18, 2017
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomesFang-Chih Tsai, Han-Jui Lee, An-Guor Wang, et al.Journal of Personalized Medicine|November 27, 2021
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell SyndromeHsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.Pageof 8