臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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機構	日期	題名	作者
臺大學術典藏	2020-12-16T02:25:51Z	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.
臺大學術典藏	2020-12-16T02:25:46Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Wuh-Liang Hwu; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:30Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU; Lee N.-C.
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	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	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
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	2020-12-16T02:25:17Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
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	2020-12-16T02:25:09Z	Congenital generalized lipodystrophy in Taiwan	Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C.
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	2020-12-16T02:25:00Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	Chien Y.-H.;Lee N.-C.;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:24:59Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	Chien Y.-H.; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; WUH-LIANG HWU
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	2020-12-09T01:38:43Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Ni-Chung Lee;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.;Chen H.-L.;Ni Y.-H.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:35Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	NI-CHUNG LEE; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.; Ni-Chung Lee;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:28Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:21Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-09T01:38:19Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-09T01:38:13Z	Congenital generalized lipodystrophy in Taiwan	Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE

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