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Molecular Genetics and Metabolism Reports|November 17, 2022
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophyTsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, et al.Molecular Genetics and Metabolism Reports|October 26, 2020
Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher diseaseFu-Shiuan Lee, Hsiu-Ju Yen, Dau-Ming Niu, et al.Journal of Human Genetics|April 5, 2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years agoKung-Hao Liang, Yung-Hsiu Lu, Chih-Wei Niu, et al.Journal of the Chinese Medical Association : JCMA|January 28, 2010
Comparison of intravenous and enteral indomethacin administration for closure of patent ductus arteriosus in extremely-low-birth-weight infantsPei-Chen Tsao, Shu-Jen Chen, Chia-Feng Yang, et al.Journal of the Chinese Medical Association : JCMA|August 21, 2012
Cranial ultrasonographic findings in healthy full-term neonates: a retrospective reviewChien-Lun Hsu, Kang-Lung Lee, Mei-Jy Jeng, et al.Molecular Genetics and Metabolism Reports|June 14, 2019
Very rare condition of multiple Gaucheroma: A case report and review of the literatureSzu-Yin Tseng, Dau-Ming Niu, Tzu-Hung Chu, et al.Molecular Genetics and Metabolism Reports|July 26, 2019
Very rare condition of multiple Gaucheroma: A case report and review of the literatureSzu-Yin Tseng, Dau-Ming Niu, Tzu-Hung Chu, et al.Kidney International|September 25, 2014
The epidemiology and prognostic factors of mortality in critically ill children with acute kidney injury in TaiwanJei-Wen Chang, Mei-Jy Jeng, Ling-Yu Yang, et al.American Journal of Medical Genetics. Part A|November 19, 2013
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatmentChia-Feng Yang, Hao-Chuan Liu, Ting-Rong Hsu, et al.Orphanet Journal of Rare Diseases|July 23, 2014
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)Hao-Chuan Liu, Hsiang-Yu Lin, Chia-Feng Yang, et al.Pageof 8