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顯示項目 726-770 / 770 (共16頁)
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機構	日期	題名	作者
臺大學術典藏	2009	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Lee N.C.; Huang C.H.; Hwu W.L.; YIN-HSIU CHIEN; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏	2009	Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏	2009	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.;Chen H.-L.;Yen-Hsuan Ni;Chien Y.-H.;Jeng Y.-M.;Chang M.-H.;Hwu W.-L.; Chen S.-T.; Chen H.-L.; YEN-HSUAN NI; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2008	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.;Hwu W.-L.;Wu M.-H.;Shoei-Shen Wang; Huang S.-C.; Wu E.-T.; Chiu S.; Hwu W.-L.; Wu M.-H.; SHOEI-SHEN WANG
臺大學術典藏	2008	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Wang R.; Chen H.-L.; Hwu W.-L.; YUNG-MING JENG; Chang M.-H.; Ling V.; Chen H.-L.
臺大學術典藏	2008	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.; Hwu W.-L.
臺大學術典藏	2008	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Ni-Chung Lee;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.;Hwu W.-L.; NI-CHUNG LEE; 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.; Hwu W.-L.
臺大學術典藏	2008	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; PI-CHUAN FAN; Lee W.-T.
臺大學術典藏	2008	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.; Wang C.-C.; Chiu S.-N.; EN-TING WU; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2008	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Wu E.-T.; Chiu S.-N.; Wang C.-C.; Huang P.-K.; YIN-HSIU CHIEN; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2008	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Wang S.-S.; MEI-HWAN WU; Hwu W.-L.; Chiu S.; Wu E.-T.; Huang S.-C.; Huang S.-C.;Wu E.-T.;Chiu S.;Hwu W.-L.;Mei-Hwan Wu;Wang S.-S.
臺大學術典藏	2008	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Zhang X.K.; Chiang S.-C.; Chien Y.-H.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2008	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.; Hwu W.-L.; Wang J.-K.; MEI-HWAN WU
臺大學術典藏	2008	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.;Chun-An Chen;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; CHUN-AN CHEN; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2008	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.; YIN-HSIU CHIEN; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L.
臺大學術典藏	2008	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.; Hwu W.-L.; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN
臺大學術典藏	2007	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	WEN-YU TSAI; Wang, S.Y.;Tung, Y.C.;Tsai, W.Y.;Chien, Y.H.;Lee, J.S.;Hwu, W.L.
臺大學術典藏	2007	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Wu R.-M.; CHUN-HWEI TAI; Lin C.-H.; Hwu W.-L.; Chiang S.-C.
臺大學術典藏	2007	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	YIN-HSIU CHIEN; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2007	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	Wang S.Y.; Tung Y.C.; Tsai W.Y.; YIN-HSIU CHIEN; Lee J.S.; Hwu W.L.
國立臺灣大學	2006-06	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.; Hwu, W. L.; Chang, M. H.
臺大學術典藏	2006	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Chang M.-H.; Ni Y.-H.; Hwu W.-L.; Jeng Y.-M.; HUEY-LING CHEN; Yeh J.-N.; Yeh J.-N.;Jeng Y.-M.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.
臺大學術典藏	2006	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Peng S.-F.
臺大學術典藏	2006	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Hwu W.-L.; Chang M.-H.; YEN-HSUAN NI; Chiu P.-C.; Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Yen-Hsuan Ni;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.
臺大學術典藏	2005	Mapping of psoriasis to 17q terminus	Chen Y.-T.; Wu J.-Y.; Hung S.-I.; Chen C.-H.; Chiang S.-C.; Chein Y.-H.; TSEN-FANG TSAI; Chen C.-L.; Yang C.-F.; Fann C.S.J.; Hwu W.-L.; Hwu W.-L.;Yang C.-F.;Fann C.S.J.;Chen C.-L.;Tsen-Fang Tsai;Chein Y.-H.;Chiang S.-C.;Chen C.-H.;Hung S.-I.;Wu J.-Y.;Chen Y.-T.
臺大學術典藏	2005	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Hwu W.-L.; Chen J.; CHIN-HSIEN LIN; Hulihan M.; Lincoln S.; Bounds R.; Wu R.-M.; Wu R.-M.;Bounds R.;Lincoln S.;Hulihan M.;Chin-Hsien Lin;Hwu W.-L.;Chen J.;Gwinn-Hardy K.;Farrer M.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏	2005	Spectrum of hypermethioninemia in neonatal screening	Hwu W.-L.; Chiang S.-C.; Huang A.; YIN-HSIU CHIEN
臺大學術典藏	2005	Reye's syndrome developing in an infant on treatment of Kawasaki syndrome	Hwu W.-L.; Ma C.-Y.; Chen C.-M.; PING-ING LEE; Chen H.-L.; Wei C.-M.; Wei C.-M.;Chen H.-L.;Ping-Ing Lee;Chen C.-M.;Ma C.-Y.;Hwu W.-L.
臺大學術典藏	2004	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Liu H.-M.; Hwu W.-L.; Chien Y.-H.; Peng S.S.-F.; Tseng W.-Y.I.
臺大學術典藏	2004	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; TA-FU CHEN; Wang H.C.; Chao M.C.; Hwu W.L.; Wu Y.R.; Wang C.K.; Wang C.K.;Wu Y.R.;Hwu W.L.;Chen C.M.;Ro L.S.;Chen S.T.;Gwinn-Hardy K.;Yang C.C.;Wu R.M.;Ta-Fu Chen;Wang H.C.;Chao M.C.;Chiu M.J.;Lu C.J.;Lee-Chen G.J.; Lee-Chen G.J.; Lu C.J.; Chiu M.J.
臺大學術典藏	2004	Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan	YIN-HSIU CHIEN; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L.
臺大學術典藏	2004	Distal Arthrogryposis in Two Sisters Born to Different Fathers [4]	Hsu C.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2004	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	YIN-HSIU CHIEN; Hwu W.L.; Ariga T.
臺大學術典藏	2004	Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan	Chien Y.-H.;Hwu W.-L.;Ariga T.;Chang K.-W.;Yao-Hsu Yang;Lin K.-H.;Chiang B.-L.; Chien Y.-H.; Hwu W.-L.; Ariga T.; Chang K.-W.; YAO-HSU YANG; Lin K.-H.; Chiang B.-L.
臺大學術典藏	2004	Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review	Hwu W.-L.; Chu S.-Y.; Tsai W.-Y.; YIN-HSIU CHIEN; Fang J.-S.; Ku C.-W.; Chang P.-Y.
臺大學術典藏	2003	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Hwu, W.-L.;Chien, Y.-H.;Liang, J.-S.;Lee, W.-T.;Wang, P.-J.;Tsai, W.-Y.; WEN-YU TSAI
臺大學術典藏	2003	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hsui J.-Y.; YIN-HSIU CHIEN; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2003	Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese	Hwu W.-L.; Chiang S.-H.; Lin J.-M.; Chou S.-P.; Lu F.L.; Lin S.-J.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.
臺大學術典藏	2002	Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study	Hwu W.-L.; YIN-HSIU CHIEN; Chu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.
臺大學術典藏	2002	An infant with heart murmur and dysmorphic face	Hwu W.-L.; YIN-HSIU CHIEN; Kuo P.-L.
臺大學術典藏	2002	DiGeorge sequence with hypogammaglobulinemia: A case report	Chiang B.-L.; Kuo P.-L.; Hwu W.-L.; Chu S.-Y.; Yang Y.-H.; YIN-HSIU CHIEN
臺大學術典藏	2002	DiGeorge sequence with hypogammaglobulinemia: A case report	Chien Y.-H.;Yao-Hsu Yang;Chu S.-Y.;Hwu W.-L.;Kuo P.-L.;Chiang B.-L.; Chien Y.-H.; YAO-HSU YANG; Chu S.-Y.; Hwu W.-L.; Kuo P.-L.; Chiang B.-L.
臺大學術典藏	2001	Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]	Kuo M.-F.; STEVEN SHINN-FORNG PENG; Young C.; Wang J.-K.; Hwu W.-L.; Wu C.-H.; Wu C.-H.;Hwu W.-L.;Wang J.-K.;Young C.;Steven Shinn-Forng Peng;Kuo M.-F.
臺大學術典藏	1996	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Wang T.R.; Chang M.H.; YEN-HSUAN NI; Hwu W.L.; Jeng Y.M.; Tsai S.Y.;Jeng Y.M.;Hwu W.L.;Yen-Hsuan Ni;Chang M.H.;Wang T.R.; Tsai S.Y.
臺大學術典藏	1988	Idiopathic inflammatory bowel disease in children and adolescents.	Hwu W.L.; MEI-HWEI CHANG; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y.

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