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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
臺大學術典藏 2019 Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; 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.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; 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.; Additional individual contributors from E-IMD
臺大學術典藏 2019 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 de Meirleir L.; Matsumoto S.; De Laet C.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Cazorla A.G.; 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.; Additional individual contributors from E-IMD; 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.
臺大學術典藏 2009 Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study Palmieri F.; Santorelli F.M.; Pierri C.L.; Hernandez J.M.; Martinez-Hernandez E.; Walter J.; Besley G.; Aldamiz-Echevarria L.; Scarano G.; Melone M.A.B.; Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.

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