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	2020-12-21T01:58:21Z	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.
臺大學術典藏	2020-12-16T02:26:01Z	Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.	Lin W.D.;Wuh-Liang Hwu;Liu S.C.;Chen C.P.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Liu S.C.; Chen C.P.; Tsai F.J.
臺大學術典藏	2020-12-16T02:25:58Z	Gene symbol: GLA. Disease: Fabry disease.	Lin W.D.;Wuh-Liang Hwu;Liu S.C.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Liu S.C.; Tsai F.J.
臺大學術典藏	2020-12-16T02:25:58Z	Gene symbol: GCDH. Disease: Glutaricacidaemia I.	Lin W.D.;Wuh-Liang Hwu;Wang C.H.;Chen C.P.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Wang C.H.; Chen C.P.; Tsai F.J.
臺大學術典藏	2020-12-16T02:25:56Z	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients	Lin W.-D.;Lin S.-P.;Wang C.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-J.;Tsai Y.;Chen C.-P.;Tsai F.-J.; Lin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:56Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:56Z	Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II	Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J.
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	2020-12-16T02:25:49Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:48Z	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.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;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.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:46Z	FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome	Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:45Z	Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry	Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:44Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:43Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
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	2020-12-16T02:25:28Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU

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