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機構	日期	題名	作者
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
臺大學術典藏	2020-12-16T02:26:14Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	Chien Y.-H.;Hsu C.-C.;Huang A.;Chou S.-P.;Lu F.-L.;Lee W.-T.;Wuh-Liang Hwu; Chien Y.-H.; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:14Z	Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.	Chien Y.H.;Chiang S.C.;Huang A.;Chou S.P.;Tseng S.S.;Huang Y.T.;Wuh-Liang Hwu; Chien Y.H.; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:14Z	Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese	Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lin S.-J.;Lu F.L.;Chou S.-P.;Lin J.-M.;Chiang S.-H.;Wuh-Liang Hwu; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lin S.-J.; Lu F.L.; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:13Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	Chien Y.H.;Wuh-Liang Hwu; Chien Y.H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:13Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	Chien Y.H.;Wuh-Liang Hwu;Ariga T.; Chien Y.H.; WUH-LIANG HWU; Ariga T.
臺大學術典藏	2020-12-16T02:26:13Z	RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoter	Wu S.-M.;Kuo W.-C.;Wuh-Liang Hwu;Hwa K.-Y.;Mantovani R.;Lee Y.-M.; Wu S.-M.; Kuo W.-C.; WUH-LIANG HWU; Hwa K.-Y.; Mantovani R.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:13Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	Chien Y.H.;Wuh-Liang Hwu;Ariga T.; Chien Y.H.; WUH-LIANG HWU; Ariga T.
臺大學術典藏	2020-12-16T02:26:12Z	Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case	Wuh-Liang Hwu;Kuo P.-L.;Hung Y.-T.;Chien Y.-H.;Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Hung Y.-T.; Chien Y.-H.; Chu S.-Y.
臺大學術典藏	2020-12-16T02:26:12Z	A step-wise diagnosis of fragile X syndrome in Taiwan	Huang Y.-T.;Chiang S.-C.;Tzeng C.-C.;Liu C.-H.;Chien Y.-H.;Wuh-Liang Hwu; Huang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; Chien Y.-H.; WUH-LIANG HWU
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	2020-12-16T02:26:12Z	Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]	Wuh-Liang Hwu;Chien Y.-H.;Hsu C.-C.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.-C.
臺大學術典藏	2020-12-16T02:26:11Z	Carbohydrate deficient glycoprotein syndrome type IA	Chu K.-L.;Chien Y.-H.;Tsai C.-E.;Freeze H.H.;Eklund E.;Wuh-Liang Hwu; Chu K.-L.; Chien Y.-H.; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:11Z	Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children	Liang J.-S.;Lee W.-T.;Wuh-Liang Hwu;Peng S.S.-F.;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; Lee W.-T.; WUH-LIANG HWU; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:11Z	Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia	Wuh-Liang Hwu;Lu M.-Y.;Hwa K.-Y.;Fan S.-W.;Lee Y.-M.; WUH-LIANG HWU; Lu M.-Y.; Hwa K.-Y.; Fan S.-W.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:11Z	Trisomy 18 in monozygotic twins with discordant phenotypes	Lee J.-T.;Chou H.-C.;Tsao P.-N.;Hsieh W.-S.;Wuh-Liang Hwu; Lee J.-T.; Chou H.-C.; Tsao P.-N.; Hsieh W.-S.; WUH-LIANG HWU

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