| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
|---|---|---|---|---|---|---|
| 2006 | Corneal lesion as the initial manifestation of tyrosinemia type II | Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE ; Niu D.-M.; Lee S.-M.; Hsu W.-M. | Journal of the Chinese Medical Association | 13 | 0 | |
| 2010 | Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 19 | 15 | |
| 2013 | Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) | Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN ; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU ; Niu D.-M.; NI-CHUNG LEE ; Lin S.-P. | Journal of Inherited Metabolic Disease | 0 | 1 | |
| 2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 1 | 2 | |
| 2019 | Functional independence of Taiwanese patients with mucopolysaccharidoses | Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU ; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 4 | 4 | |
| 2009 | Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR | Hung C.-C.; SHIN-YU LIN ; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE ; WEN-FANG CHENG ; Chen C.-P.; Lin, Win-Li ; CHIEN-NAN LEE ; Su Y.-N. | Electrophoresis | 5 | 6 | |
| 2009 | Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis | Hung C.-C.; SHIN-YU LIN ; CHIEN-NAN LEE ; Cheng H.-Y.; Lin C.-Y.; Chang C.-H.; Chiu H.-H.; CHIH-CHIEH YU ; Lin S.-P.; WEN-FANG CHENG ; HONG-NERNG HO ; Niu D.-M.; Su Y.-N. | Analytical Biochemistry | 10 | 10 | |
| 2009 | Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 | Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU ; Lin J.-L. | American Journal of Medical Genetics, Part A | 148 | 137 | |
| 2006 | Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency | NI-CHUNG LEE ; Cheng L.-Y.; Liu T.-T.; Hsiao K.-J.; Chiu P.-C.; Niu D.-M. | Molecular Genetics and Metabolism | 13 | 13 | |
| 2008 | Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency | Liu K.-M.; Liu T.-T.; NI-CHUNG LEE ; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. | Archives of Neurology | 20 | 13 | |
| 2016 | Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography | Liu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H. | Clinica Chimica Acta | 4 | 4 | |
| 2019 | Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups | Chu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; REY-HENG HU ; MING-CHIH HO ; Niu D.-M. | Orphanet Journal of Rare Diseases | 19 | 17 | |
| 2018 | Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period | Lin H.-Y.; Chuang C.-K.; Lee C.-L.; Tu R.-Y.; Lo Y.-T.; Chiu P.C.; Niu D.-M.; Fang Y.-Y.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Chang T.-M.; Lin S.-P. | American Journal of Medical Genetics, Part A | 23 | 22 | |
| 2009 | Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome | Hung C.-C.; SHIN-YU LIN ; CHIEN-NAN LEE ; Cheng H.-Y.; Lin S.-P.; Chen M.-R.; Chen C.-P.; Chang C.-H.; Lin C.-Y.; CHIH-CHIEH YU ; Chiu H.-H.; WEN-FANG CHENG ; HONG-NERNG HO ; Niu D.-M.; Su Y. | Annals of Human Genetics | 24 | 23 | |
| 2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 123 | 106 | |
| 2014 | Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA | Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P. | Orphanet Journal of Rare Diseases | 23 | 24 | |
| 2010 | Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan | Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE ; WUH-LIANG HWU ; Lin J.-L.; Hung P.-Y.; Niu D.-M. | Journal of the Chinese Medical Association | 16 | 12 | |
| 2019 | Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses | Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 8 | 10 | |
| 2019 | Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses | Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P. | Diagnostics | 11 | 9 | |
| 2020 | Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) | Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. | Orphanet Journal of Rare Diseases | 13 | 12 |
