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
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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. |