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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:48Z	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan	Niu D.-M.;Chien Y.-H.;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.; Niu D.-M.; Chien Y.-H.; 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.
臺大學術典藏	2020-12-16T02:25:45Z	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.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; 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.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M.
臺大學術典藏	2020-12-16T02:25:29Z	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.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:25Z	Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA	Lin S.-P.; 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.
臺大學術典藏	2020-12-16T02:25:20Z	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:20Z	Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI	Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:14Z	Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)	Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:12Z	Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period	Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; 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.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:10Z	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.; 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.
臺大學術典藏	2020-12-16T02:25:07Z	Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups	Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Wuh-Liang Hwu;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.
臺大學術典藏	2020-12-16T02:25:06Z	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.; 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.
臺大學術典藏	2020-12-16T02:25:06Z	Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA	Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:02Z	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.; 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.
臺大學術典藏	2020-12-09T01:38:44Z	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.; Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE; Niu D.-M.; Lee S.-M.; Hsu W.-M.
臺大學術典藏	2020-12-09T01:38:44Z	Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency	Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M.
臺大學術典藏	2020-12-09T01:38:44Z	Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.	Ni-Chung Lee;Hwang B.;Chen C.H.;Niu D.M.; NI-CHUNG LEE; Hwang B.; Chen C.H.; Niu D.M.
臺大學術典藏	2020-12-09T01:38:44Z	Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism	Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y.
臺大學術典藏	2020-12-09T01:38:43Z	α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5]	Ni-Chung Lee;Niu D.-M.;Lin C.-Y.;Hsiao K.-J.;Yang A.-H.;Ng Y.-Y.; NI-CHUNG LEE; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y.
臺大學術典藏	2020-12-09T01:38:41Z	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.; Liu K.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M.
臺大學術典藏	2020-12-09T01:38:38Z	Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR	Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.
臺大學術典藏	2020-12-09T01:38:36Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Hwu W.-L.;Niu D.-M.;Ni-Chung Lee;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P.
臺大學術典藏	2020-12-09T01:38:35Z	Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan	Hung P.-Y.; Niu D.-M.; 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;Hwu W.-L.;Lin J.-L.;Hung P.-Y.;Niu D.-M.; 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; Hwu W.-L.; Lin J.-L.
臺大學術典藏	2020-12-09T01:38:22Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Liu T.-T.; Fan Y.-L.; Niu D.-M.; Chien Y.-H.; Chou Y.-Y.; NI-CHUNG LEE; Hsiao K.-J.; Chiu Y.-H.; Liu Y.-N.
臺大學術典藏	2020-12-09T01:38:11Z	Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups	Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Ni-Chung Lee;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; NI-CHUNG LEE; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.

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