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

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机构	日期	题名	作者
臺大學術典藏	2020-12-16T02:26:26Z	Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population	Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU; Day K.-R.; Wang C.-K.
臺大學術典藏	2020-12-16T02:26:26Z	Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan	Su P.-H.; WUH-LIANG HWU; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:26Z	Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease	Wang P.-J.;Wuh-Liang Hwu;Lee W.-T.;Wang T.-R.;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Lee W.-T.; Wang T.-R.; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:26Z	Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene	Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU; Lam C.-W.
臺大學術典藏	2020-12-16T02:26:25Z	Allele distribution at the FMR1 locus in the general Chinese population	Chiang S.-C.;Lee Y.-M.;Wang T.-R.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:25Z	Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation	Hsu Y.-S.;Wuh-Liang Hwu;Huang S.-F.;Lu M.-Y.;Chen R.-L.;Lin D.-T.;Peng S.S.F.;Lin K.-H.; Hsu Y.-S.; WUH-LIANG HWU; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H.
臺大學術典藏	2020-12-16T02:26:25Z	Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease	Peng S.S.-F.; Li Y.-W.; WUH-LIANG HWU
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	2020-12-16T02:26:25Z	Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))	Ko T.-M.;Wuh-Liang Hwu;Lin Y.-W.;Tseng L.-H.;Hwa H.-L.;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; WUH-LIANG HWU; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K.
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	2020-12-16T02:26:24Z	Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation	Wuh-Liang Hwu;Wang P.-J.;Hsiao K.-J.;Wang T.-R.;Chiou Y.-W.;Lee Y.-M.; WUH-LIANG HWU; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:24Z	Neonatal type of nonketotic hyperglycinemia	Lu F.L.;Wang P.-J.;Wuh-Liang Hwu;Tsou Yau K.-I.;Wang T.-R.; Lu F.L.; Wang P.-J.; WUH-LIANG HWU; Tsou Yau K.-I.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation	Wuh-Liang Hwu;Suzuki Y.;Yang X.;Li X.;Chou S.-P.;Narisawa K.;Tsai W.-Y.; WUH-LIANG HWU; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:26:23Z	Carnitine transport defect presenting with hyperammonemia: Report of one case	Wuh-Liang Hwu;Chiang S.-C.;Chang M.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Chang M.-H.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations	Wuh-Liang Hwu;Chiang S.-C.;Huang S.-F.;Chang M.-H.;Wen W.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Huang S.-F.; Chang M.-H.; Wen W.-H.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia	Chiang S.-C.;Lee Y.-M.;Chang M.-H.;Wang T.-R.;Ko T.-M.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Chang M.-H.; Wang T.-R.; Ko T.-M.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:22Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Yang T.-Y.;Chen H.-L.;Ni Y.-H.;Wuh-Liang Hwu;Chang M.-H.; Yang T.-Y.; Chen H.-L.; Ni Y.-H.; WUH-LIANG HWU; Chang M.-H.
臺大學術典藏	2020-12-16T02:26:22Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.;Huang S.-F.;Wuh-Liang Hwu;Hou J.-W.;Ni Y.-H.;Chang M.-H.; Chang P.-F.; Huang S.-F.; WUH-LIANG HWU; Hou J.-W.; Ni Y.-H.; Chang M.-H.
臺大學術典藏	2020-12-16T02:26:22Z	Congenital contractural arachnodactyly (Beals syndrome)	Su P.-H.;Hou J.-W.;Wuh-Liang Hwu;Wu M.-H.;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; WUH-LIANG HWU; Wu M.-H.; Wang J.-K.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:22Z	Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S	Teng Y.N.;Wang T.R.;Wuh-Liang Hwu;Lin S.P.;Lee-Chen G.J.; Teng Y.N.; Wang T.R.; WUH-LIANG HWU; Lin S.P.; Lee-Chen G.J.
臺大學術典藏	2020-12-16T02:26:22Z	Dopa-responsive dystonia is induced by a dominant-negative mechanism	Wuh-Liang Hwu;Chiou Y.-W.;Lai S.-Y.;Lee Y.-M.; WUH-LIANG HWU; Chiou Y.-W.; Lai S.-Y.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:21Z	MRI in a case of adult-onset citrullinemia	Chen Y.-F.;Huang Y.-C.;Liu H.-M.;Wuh-Liang Hwu; Chen Y.-F.; Huang Y.-C.; Liu H.-M.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:21Z	A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.	Wuh-Liang Hwu;Kobayashi K.;Hu Y.H.;Yamaguchi N.;Saheki T.;Chou S.P.;Wang J.H.; WUH-LIANG HWU; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H.
臺大學術典藏	2020-12-16T02:26:21Z	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency	Binzak B.A.;Wevers R.A.;Moolenaar S.H.;Lee Y.-M.;Wuh-Liang Hwu;Poggi-Bach J.;Engelke U.F.H.;Hoard H.M.;Vockley J.G.;Vockley J.; Binzak B.A.; Wevers R.A.; Moolenaar S.H.; Lee Y.-M.; WUH-LIANG HWU; Poggi-Bach J.; Engelke U.F.H.; Hoard H.M.; Vockley J.G.; Vockley J.
臺大學術典藏	2020-12-16T02:26:21Z	Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies	Wang P.-J.;Wuh-Liang Hwu;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:21Z	Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan	Wong L.-J.C.;Wuh-Liang Hwu;Dai P.;Chen T.-J.; Wong L.-J.C.; WUH-LIANG HWU; Dai P.; Chen T.-J.
臺大學術典藏	2020-12-16T02:26:20Z	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant	Chien Y.-H.;Chu S.-Y.;Hsu C.-C.;Wuh-Liang Hwu; Chien Y.-H.; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:20Z	A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.	Tang N.L.;Wuh-Liang Hwu;Chan R.T.;Law L.K.;Fung L.M.;Zhang W.M.; Tang N.L.; WUH-LIANG HWU; Chan R.T.; Law L.K.; Fung L.M.; Zhang W.M.
臺大學術典藏	2020-12-16T02:26:20Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	Chien Y.-H.;Chiang S.-C.;Huang A.;Lin J.-M.;Chiu Y.-N.;Chou S.-P.;Chu S.-Y.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:20Z	Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]	Wu C.-H.;Wuh-Liang Hwu;Wang J.-K.;Young C.;Peng S.S.-F.;Kuo M.-F.; Wu C.-H.; WUH-LIANG HWU; Wang J.-K.; Young C.; Peng S.S.-F.; Kuo M.-F.
臺大學術典藏	2020-12-16T02:26:19Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu R.-M.;Shan D.-E.;Sun C.-M.;Liu R.-S.;Wuh-Liang Hwu;Tai C.-H.;Hussey J.;West A.;Gwinn-Hardy K.;Hardy J.;Chen J.;Farrer M.;Lincoln S.; Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; WUH-LIANG HWU; Tai C.-H.; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.
臺大學術典藏	2020-12-16T02:26:19Z	Cockayne syndrome in a family	Chien Y.-H.;Chou H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Chou H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:19Z	Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome	Chan P.-C.;Chiu H.-C.;Wuh-Liang Hwu; Chan P.-C.; Chiu H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:19Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Chien Y.-H.;Peng S.-F.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Peng S.-F.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	An infant with heart murmur and dysmorphic face	Kuo P.-L.; WUH-LIANG HWU; Chien Y.-H.;Kuo P.-L.;Wuh-Liang Hwu; Chien Y.-H.
臺大學術典藏	2020-12-16T02:26:18Z	Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease	Hsu C.-C.;Chien Y.-H.;Lai M.-Y.;Wuh-Liang Hwu; Hsu C.-C.; Chien Y.-H.; Lai M.-Y.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study	Chu S.-Y.;Tsai W.-Y.;Chen L.-H.;Wei M.-L.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	DiGeorge sequence with hypogammaglobulinemia: A case report	Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Wuh-Liang Hwu;Kuo P.-L.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Chiang B.-L.
臺大學術典藏	2020-12-16T02:26:17Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chou C.-C.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chou C.-C.; Chiang B.-L.
臺大學術典藏	2020-12-16T02:26:17Z	Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease	Yang C.-C.;Lai L.-W.;Whitehair O.;Wuh-Liang Hwu;Chiang S.-C.;Lien Y.-H.H.; Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU; Chiang S.-C.; Lien Y.-H.H.
臺大學術典藏	2020-12-16T02:26:17Z	Neonatal screening and monitoring system in Taiwan.	Wuh-Liang Hwu;Huang A.C.;Chen J.S.;Hsiao K.J.;Tsai W.Y.; WUH-LIANG HWU; Huang A.C.; Chen J.S.; Hsiao K.J.; Tsai W.Y.
臺大學術典藏	2020-12-16T02:26:17Z	Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations	Kobayashi K.;Lu Y.B.;Li M.X.;Nishi I.;Hsiao K.-J.;Choeh K.;Yang Y.;Wuh-Liang Hwu;Reichardt J.K.V.;Palmieri F.;Okano Y.;Saheki T.; Kobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T.
臺大學術典藏	2020-12-16T02:26:17Z	Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan	WUH-LIANG HWU; Chien Y.-H.; Chu S.-Y.;Chiang S.-C.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:16Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Wuh-Liang Hwu;Chien Y.-H.;Liang J.-S.;Lee W.-T.;Wang P.-J.;Tsai W.-Y.; WUH-LIANG HWU; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:26:16Z	Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both?	Wuh-Liang Hwu;Yu C.-L.; WUH-LIANG HWU; Yu C.-L.
臺大學術典藏	2020-12-16T02:26:16Z	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Lee P.-H.;Wuh-Liang Hwu; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:15Z	Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:15Z	Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells	Wuh-Liang Hwu;Yeh H.-Y.;Fang S.-W.;Chiang H.-S.;Chiou Y.-W.;Lee Y.-M.; WUH-LIANG HWU; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:15Z	Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:15Z	Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case	Wang I.-J.;Chu S.-Y.;Wang C.-Y.;Wang P.-J.;Wuh-Liang Hwu; Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU

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