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Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:17:00Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:57Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	YIN-HSIU CHIEN; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:56Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Huang H.-J.; Lee N.-C.; YIN-HSIU CHIEN; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:41Z	Outcome of early-treated type III Gaucher disease patients	Hwu W.-L.; Shun C.-T.; Chao M.-C.; Leung J.H.; Lee N.-C.; YIN-HSIU CHIEN; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.
臺大學術典藏	2020-12-24T06:16:40Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Hwu W.-L.; Tsai F.-J.; Thurberg B.L.; Tsai Y.-J.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:37Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Tsai F.-J.; Chen C.-A.; Lee N.-C.; YIN-HSIU CHIEN; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:34Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
臺大學術典藏	2020-12-24T06:16:33Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; 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	2020-12-24T06:16:32Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Hwu W.-L.; YIN-HSIU CHIEN; Wen M.-S.; Song I.-W.; Chang C.-P.; Wang N.H.-H.; Chiang H.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-24T06:16:31Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-24T06:16:27Z	Functional independence of Taiwanese children with Prader–Willi syndrome	Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P.
臺大學術典藏	2020-12-24T06:16:24Z	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.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:15Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:13Z	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.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-21T01:58:22Z	Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy	Chiu Y.-N.; Tsai F.-J.; Chiang H.-L.; Lee C.-M.; Gau S.S.-F.; Lee W.-T.; PI-CHUAN FAN; Wu Y.-Y.
臺大學術典藏	2020-12-21T01:58:21Z	ADHD-related symptoms, emotional/behavioral problems, and physical conditions in Taiwanese children with epilepsy	Chiu Y.-N.; Gau S.S.F.; Lin W.-S.; PI-CHUAN FAN; Lee W.-T.; Lee C.-M.; Liu S.-T.; Tsai F.-J.; Tsai F.-J.;Liu S.-T.;Lee C.-M.;Lee W.-T.;Pi-Chuan Fan;Lin W.-S.;Chiu Y.-N.;Gau S.S.F.
臺大學術典藏	2020-12-21T01:58:21Z	Molecular aspects of Dravet syndrome patients in Taiwan	Tsai F.-J.; Tsai C.-H.; Chou I.-C.; Tsai Y.; Lin W.-C.; Weng W.-C.; PI-CHUAN FAN; Chen S.-J.; Lin W.-D.;Chang K.-P.;Wang C.-H.;Chen S.-J.;Pi-Chuan Fan;Weng W.-C.;Lin W.-C.;Tsai Y.;Tsai C.-H.;Chou I.-C.;Tsai F.-J.; Lin W.-D.; Chang K.-P.; Wang C.-H.
臺大學術典藏	2020-12-18T02:21:47Z	Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy	Chiu Y.-N.; Wu Y.-Y.; Tsai F.-J.; Chiang H.-L.; Lee C.-M.; Gau S.S.-F.; WANG-TSO LEE; Fan P.-C.
臺大學術典藏	2020-12-16T02:26:32Z	Niemann-Pick disease type B with ocular involvement: report of a case.	Tsai F.J.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.; Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:29Z	Molecular diagnosis of Gaucher disease type II.	Tsai F.J.;Chen H.W.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Liu S.C.; Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Liu S.C.
臺大學術典藏	2020-12-16T02:26:28Z	Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene.	Tsai F.J.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Shu S.G.;Liu S.C.; Tsai F.J.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Shu S.G.; Liu S.C.
臺大學術典藏	2020-12-16T02:26:25Z	Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome	Tsai F.-J.; WUH-LIANG HWU; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H.
臺大學術典藏	2020-12-16T02:26:24Z	3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case	Lee C.;Tsai F.-J.;Wu J.-Y.;Peng C.-T.;Tsai C.-H.;Wuh-Liang Hwu;Wang T.-R.;Millington D.S.; Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU; Wang T.-R.; Millington D.S.
臺大學術典藏	2020-12-16T02:26:12Z	Detection of a homozygous D645E mutation of the acid α-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II [3]	Chen C.-P.;Lin S.-P.;Tzen C.-Y.;Tsai F.-J.;Wuh-Liang Hwu;Wang W.; Chen C.-P.; Lin S.-P.; Tzen C.-Y.; Tsai F.-J.; WUH-LIANG HWU; Wang W.
臺大學術典藏	2020-12-16T02:26:04Z	Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations	Wan L.;Hsu C.-M.;Tsai C.-H.;Lee C.-C.;Wuh-Liang Hwu;Tsai F.-J.; Wan L.; Hsu C.-M.; Tsai C.-H.; Lee C.-C.; WUH-LIANG HWU; Tsai F.-J.

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