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機構	日期	題名	作者
臺大學術典藏	2020-12-16T02:26:05Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Yeh J.-N.;Jeng Y.-M.;Chen H.-L.;Ni Y.-H.;Wuh-Liang Hwu;Chang M.-H.; Yeh J.-N.; Jeng Y.-M.; Chen H.-L.; Ni Y.-H.; WUH-LIANG HWU; Chang M.-H.
臺大學術典藏	2020-12-16T02:26:05Z	A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease	Kishnani P.S.;Wuh-Liang Hwu;Mandel H.;Nicolino M.;Yong F.;Corzo D.; Kishnani P.S.; WUH-LIANG HWU; Mandel H.; Nicolino M.; Yong F.; Corzo D.
臺大學術典藏	2020-12-16T02:26:04Z	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Chien Y.-H.;Lee N.-C.;Peng S.-F.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Peng S.-F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:04Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; WUH-LIANG HWU
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	2020-12-16T02:26:03Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	Wang C.-C.;Chen Y.-W.;Wu E.-T.;Chien Y.-H.;Wuh-Liang Hwu;Ko W.-J.;Huang S.-C.; Wang C.-C.; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU; Ko W.-J.; Huang S.-C.
臺大學術典藏	2020-12-16T02:26:03Z	Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease	Kishnani P.S.;Corzo D.;Nicolino M.;Byrne B.;Mandel H.;Wuh-Liang Hwu;Leslie N.;Levine J.;Spencer C.;Mcdonald M.;Li J.;Dumontier J.;Halberthal M.;Chien Y.H.;Hopkin R.;Vijayaraghavan S.;Gruskin D.;Bartholomew D.;Van Der Ploeg A.;Clancy J.P.;Parini R.;Morin G.;Beck M.;De La Gastine G.S.;Jokic M.;Thurberg B.;Richards S.;Bali D.;Davison M.;Worden M.A.;Chen Y.T.;Wraith J.E.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; Chien Y.H.; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E.
臺大學術典藏	2020-12-16T02:26:03Z	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	Tsai L.-K.;Tsai M.-S.;Lin T.-B.;Wuh-Liang Hwu;Li H.; Tsai L.-K.; Tsai M.-S.; Lin T.-B.; WUH-LIANG HWU; Li H.
臺大學術典藏	2020-12-16T02:26:03Z	Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype	Chen M.;Wuh-Liang Hwu;Kuo S.-J.;Chen C.-P.;Yin P.-L.;Chang S.-P.;Lee D.-J.;Chen T.-H.;Wang B.-T.;Lin C.-C.; Chen M.; WUH-LIANG HWU; Kuo S.-J.; Chen C.-P.; Yin P.-L.; Chang S.-P.; Lee D.-J.; Chen T.-H.; Wang B.-T.; Lin C.-C.
臺大學術典藏	2020-12-16T02:26:02Z	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	Wang S.Y.;Tung Y.C.;Tsai W.Y.;Chien Y.H.;Lee J.S.;Wuh-Liang Hwu; Wang S.Y.; Tung Y.C.; Tsai W.Y.; Chien Y.H.; Lee J.S.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:02Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Wuh-Liang Hwu; Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:01Z	Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)	Chen C.-P.;Lin S.-P.;Tzen C.-Y.;Wuh-Liang Hwu;Chern S.-R.;Chuang C.-K.;Chiang S.-S.;Wang W.; Chen C.-P.; Lin S.-P.; Tzen C.-Y.; WUH-LIANG HWU; Chern S.-R.; Chuang C.-K.; Chiang S.-S.; Wang W.
臺大學術典藏	2020-12-16T02:26:01Z	Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification	Huang C.-H.;Chang Y.-Y.;Chen C.-H.;Kuo Y.-S.;Wuh-Liang Hwu;Gerdes T.;Ko T.-M.; Huang C.-H.; Chang Y.-Y.; Chen C.-H.; Kuo Y.-S.; WUH-LIANG HWU; Gerdes T.; Ko T.-M.
臺大學術典藏	2020-12-16T02:26:01Z	Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.	Wuh-Liang Hwu;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Lee N.C.; WUH-LIANG HWU; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; Lee N.C.
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	2020-12-16T02:26:00Z	Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendations	Kemper A.R.;Wuh-Liang Hwu;Lloyd-Puryear M.;Kishnani P.S.; Kemper A.R.; WUH-LIANG HWU; Lloyd-Puryear M.; Kishnani P.S.
臺大學術典藏	2020-12-16T02:26:00Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Lin C.-H.;Wuh-Liang Hwu;Chiang S.-C.;Tai C.-H.;Wu R.-M.; Lin C.-H.; WUH-LIANG HWU; Chiang S.-C.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-12-16T02:26:00Z	Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort	Wu E.-T.; Lu F.; Wang J.-K.; Wu M.-H.; Wang C.-C.;Wuh-Liang Hwu;Wu E.-T.;Lu F.;Wang J.-K.;Wu M.-H.; Wang C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:00Z	The design and implementation of a next generation information system for newborn screening	Tu C.-M.;Tang M.-Y.;Chang H.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Lai F.; Tu C.-M.; Tang M.-Y.; Chang H.-Y.; WUH-LIANG HWU; Chien Y.-H.; Lai F.
臺大學術典藏	2020-12-16T02:25:59Z	A promoter sequence variant of ZNF750 is linked with familial psoriasis	Yang C.-F.;Wuh-Liang Hwu;Yang L.-C.;Chung W.-H.;Chien Y.-H.;Hung C.-F.;Chen H.-C.;Tsai P.-J.;Fann C.S.J.;Liao F.;Chen Y.-T.; Yang C.-F.; WUH-LIANG HWU; Yang L.-C.; Chung W.-H.; Chien Y.-H.; Hung C.-F.; Chen H.-C.; Tsai P.-J.; Fann C.S.J.; Liao F.; Chen Y.-T.
臺大學術典藏	2020-12-16T02:25:59Z	A review of treatment of pompe disease in infants	Chien Y.-H.;Wuh-Liang Hwu; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:59Z	The genetics of atopic dermatitis	Chien Y.-H.;Wuh-Liang Hwu;Chiang B.-L.; Chien Y.-H.; WUH-LIANG HWU; Chiang B.-L.
臺大學術典藏	2020-12-16T02:25:59Z	Valproic acid treatment in six patients with spinal muscular atrophy [5]	Tsai L.-K.;Yang C.-C.;Wuh-Liang Hwu;Li H.; Tsai L.-K.; Yang C.-C.; WUH-LIANG HWU; Li H.
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	2020-12-16T02:25:58Z	[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].	Song Y.Z.;Sheng J.S.;Ushikai M.;Wuh-Liang Hwu;Zhang C.H.;Kobayashi K.; Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU; Zhang C.H.; Kobayashi K.
臺大學術典藏	2020-12-16T02:25:58Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	Chien Y.-H.;Lee N.-C.;Wu S.-T.;Liou J.-J.;Chen H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:58Z	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.;Wuh-Liang Hwu;Huang Y.-T.;Huang A.-C.;Wang S.-F.;Hu M.-H.;Chien Y.-H.; Hsieh C.-T.; WUH-LIANG HWU; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:58Z	Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein	Chiou Y.-W.;Wuh-Liang Hwu;Lee Y.-M.; Chiou Y.-W.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:57Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.;Wang C.-C.;Chiu S.-N.;Wu E.-T.;Chien Y.-H.;Wuh-Liang Hwu;Wang J.-K.;Wu M.-H.; Huang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:57Z	Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders	Bodamer O.;De Jesus V.;Keutzer J.;Zhang K.;Wuh-Liang Hwu;M?Hl A.; Bodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU; M?hl A.
臺大學術典藏	2020-12-16T02:25:57Z	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence	Ralston E.;Swaim B.;Czapiga M.;Wuh-Liang Hwu;Chien Y.-H.;Pittis M.G.;Bembi B.;Schwartz O.;Plotz P.;Raben N.; Ralston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU; Chien Y.-H.; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.
臺大學術典藏	2020-12-16T02:25:57Z	Alglucosidase Alfa (Myozyme?) in Infants and Children with Rapidly Progressive Pompe Disease	Corzo D.;Byrne B.;Wuh-Liang Hwu;Leslie N.;Mandel H.;Nicolino M.; Corzo D.; Byrne B.; WUH-LIANG HWU; Leslie N.; Mandel H.; Nicolino M.
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	2020-12-16T02:25:56Z	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.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-16T02:25:55Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.;Wu E.-T.;Chiu S.;Wuh-Liang Hwu;Wu M.-H.;Wang S.-S.; Huang S.-C.; Wu E.-T.; Chiu S.; WUH-LIANG HWU; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-12-16T02:25:55Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Lee N.-C.;Wuh-Liang Hwu;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU; Fan P.-C.; Lee W.-T.
臺大學術典藏	2020-12-16T02:25:55Z	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Chen H.-L.;Wang R.;Chen H.-L.;Wuh-Liang Hwu;Jeng Y.-M.;Chang M.-H.;Ling V.; Chen H.-L.; Wang R.; Chen H.-L.; WUH-LIANG HWU; Jeng Y.-M.; Chang M.-H.; Ling V.
臺大學術典藏	2020-12-16T02:25:55Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:54Z	Myopathy in Gaucher disease	Tsai L.-K.;Chien Y.-H.;Yang C.-C.;Wuh-Liang Hwu; Tsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Web Services based newborn screening system with Support Vector Machines	Hsieh S.-H.;Hsieh S.-L.;Weng Y.-C.;Chien Y.-H.;Wang Z.;Chen P.-H.;Chang H.-Y.;Lai F.;Wuh-Liang Hwu; Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Screening for pompe disease and fabry disease	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:53Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Lee N.C.; Chang T.C.; Chien Y.H.; WUH-LIANG HWU; Chien Y.H.; Huang H.P.
臺大學術典藏	2020-12-16T02:25:53Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	Lee N.-C.;Dimmock D.;Wuh-Liang Hwu;Tang L.-Y.;Huang W.-C.;Chinault A.C.;Wong L.-J.C.; Lee N.-C.; Dimmock D.; WUH-LIANG HWU; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-16T02:25:53Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Chen S.-T.;Fan P.-C.;Wuh-Liang Hwu;Wu M.-H.; Chen S.-T.; Fan P.-C.; WUH-LIANG HWU; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:53Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:52Z	Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report	Lin L.-C.; WUH-LIANG HWU; Yang R.-C.

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