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机构 日期 题名 作者
臺大學術典藏 2020-12-16T02:25:09Z Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes Abdenur J.E.; Benke P.J.; Taft R.J.; WUH-LIANG HWU; Simon M.T.;Eftekharian S.S.;Stover A.E.;Osborne A.F.;Braffman B.H.;Chang R.C.;Wang R.Y.;Steenari M.R.;Tang S.;Wuh-Liang Hwu;Taft R.J.;Benke P.J.;Abdenur J.E.; Simon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S.
臺大學術典藏 2020-12-16T02:25:09Z Congenital generalized lipodystrophy in Taiwan Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:09Z Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency Ho S.-Y.;Chien Y.-H.;Tsai L.-K.;Muramatsu S.-I.;Wuh-Liang Hwu;Liou H.-H.;Lee N.-C.; Ho S.-Y.; Chien Y.-H.; Tsai L.-K.; Muramatsu S.-I.; WUH-LIANG HWU; Liou H.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:08Z Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments Luo S.;Alexander Valencia C.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Wuh-Liang Hwu;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏 2020-12-16T02:25:08Z Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) Wasserstein M.;Dionisi-Vici C.;Giugliani R.;Wuh-Liang Hwu;Lidove O.;Lukacs Z.;Mengel E.;Mistry P.K.;Schuchman E.H.;Mcgovern M.; Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M.
臺大學術典藏 2020-12-16T02:25:08Z Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs Hsu R.-H.;Wuh-Liang Hwu;Chen M.;Chung I.-F.;Peng S.S.-F.;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; WUH-LIANG HWU; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:07Z Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Wuh-Liang Hwu;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.
臺大學術典藏 2020-12-16T02:25:07Z Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Lund A.M.;Rizopoulos D.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Karall D.;Scholl-B?Rgi S.;De Laet C.;Matsumoto S.;De Meirleir L.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Gil-Ortega D.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Bari? I.;Additional Individual Contributors From E-Imd; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD
臺大學術典藏 2020-12-16T02:25:06Z Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chiang B.-L.
臺大學術典藏 2020-12-16T02:25:06Z Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency Tseng C.-H.;Chien Y.-H.;Lee N.-C.;Hsu Y.-C.;Peng S.-F.;Tseng W.-Y.I.;Wuh-Liang Hwu; Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; WUH-LIANG HWU

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