학술논문
'학술논문'
에서 검색결과 35건 | 목록
1~10
Academic Journal
Falkenberg, KD; Braverman, NE; Moser, AB; Steinberg, SJ; Klouwer, FCC; Schluter, A; Ruiz, M; Pujol, A; Engvall, M; Naess, K; van Spronsen, F; Korver-Keularts, I; Rubio-Gozalbo, ME; Ferdinandusse, S; Wanders, RJA; Waterham, HR
American journal of human genetics. 101(6):965-976
Academic Journal
Heard, JM; Vrinten, C; Schlander, M; Bellettato, CM; van Lingen, C; Scarpa, M; Matthijs, G; Nassogne, MC; Debray, FG; Roland, D; Chamova, T; Kozich, V; Pavel, J; Zenker, M; Lampe, C; Das, AM; Hennermann, J; Kolker, S; Weinhold, N; Mohnike, K; Gruenert, S; Lund, AM; Morales-Conejo, M; del Toro-Riera, M; Aldamiz-Echevarria, L; Garcia-Silva, MT; Schiff, M; Gouya, L; Labrune, P; de Lonlay, P; Belmatoug, N; Germain, DP; Cano, A; Dobbelaere, D; Jones, S; Dawson, C; Deegan, P; Santra, S; Vijay, S; Ramadza, DP; Baric, I; Zigman, T; Pflieger, G; Szakszon, K; Kaposta, R; Gasperini, S; Burlina, A; Parenti, G; Strisciuglio, P; Ceccarini, G; Federico, A; Simonati, A; Tumiene, B; Huidekoper, H; van Spronsen, F; Bosch, A; Rubio-Gozalbo, ME; Visser, G; Tangeraas, T; Aarsand, A; Kiec-Wilk, B; Gaspar, AMSM; Quelhas, D; Leao-Teles, E; Azevedo, O; Silva, EMFR; Matos, LMDFD; Martins, E; Lajic, S; Darin, N; Groselj, U; Tansek, MZ
Orphanet journal of rare diseases. 15(1):3
Academic Journal
Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio-Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec-Wilk, B; Gaspar, AMSM; Martins, E; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce-Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro-Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T
Orphanet journal of rare diseases. 14(1):119
Electronic Resource
Welsink-Karssies, MM; Ferdinandusse, S; Geurtsen, GJ; Hollak, CEM; Huidekoper, Hidde; Janssen, M; Langendonk, Janneke; v.d. Lee, JH; O'Flaherty, R; Oostrom, KJ; Roosendaal, Stefan; Rubio-Gozalbo, ME; Saldova, R; Treacy, EP; Vaz, FM; de Vries, MC; Engelen, MP; Bosch, A
Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 .
Electronic Resource
Welsink-Karssies, MM; van Harskamp, D; Ferdinandusse, S; Hollak, CEM; Huidekoper, Hidde; Janssen, MCH; Kemper, EM; Langendonk, Janneke; Rubio-Gozalbo, ME; de Vries, MC; Wijburg, FA; Schierbeek, H; Bosch, AM
Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 .
Electronic Resource
Haijes, HA; Molema, F; Langeveld, M; Janssen, M; Bosch, A; van Spronsen, F; Mulder, MF (Margot); Verhoeven-Duif, NM; Jans, JJM; van der Ploeg, Ans; Wagenmakers, Margreet; Rubio-Gozalbo, ME; Brouwers, M; de Vries, MC; Langendonk, Janneke; Williams, Monique; van Hasselt, PM
Haijes , HA , Molema , F , Langeveld , M , Janssen , M , Bosch , A , van Spronsen , F , Mulder , MF , Verhoeven-Duif , NM , Jans , JJM , van der Ploeg , A , Wagenmakers , M , Rubio-Gozalbo , ME , Brouwers , M , de Vries , MC , Langendonk , J , Williams , M & van Hasselt , PM 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 .
Electronic Resource
Ammer, LS; Oussoren, Esmeralda; Muschol, NM; Pohl, S; Rubio-Gozalbo, ME; Santer, R; Stuecker, R; Vettorazzi, E; Breyer, SR
Ammer , LS , Oussoren , E , Muschol , NM , Pohl , S , Rubio-Gozalbo , ME , Santer , R , Stuecker , R , Vettorazzi , E & Breyer , SR 2020 , ' Hip Morphology in Mucolipidosis Type II ' , Journal of Clinical Medicine , vol. 9 , no. 3 .
Electronic Resource
van Rijt, WJ; Ferdinandusse, S; Giannopoulos, P; Ruiter, JP; Boer, L; Bosch, AM; Huidekoper, Hidde; Rubio-Gozalbo, ME; Visser, G; Williams, Monique; Wanders, RJA; Derks, TGJ
van Rijt , WJ , Ferdinandusse , S , Giannopoulos , P , Ruiter , JP , Boer , L , Bosch , AM , Huidekoper , H , Rubio-Gozalbo , ME , Visser , G , Williams , M , Wanders , RJA & Derks , TGJ 2019 , ' Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 878-889 .
Electronic Resource
Rubio-Gozalbo, ME; Haskovic, M; Bosch, AM; Burnyte, B; Coelho, AI; Cassiman, D; Couce, ML; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, MT; Grunewald, S; Haberle, J; Hochuli, M; Hubert, A; Huidekoper, Hidde; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, YE; Langendonk, Janneke; Moeslinger, D; Mueller-Wieland, D; Murphy, E; Ounap, K; Ramadza, D; Rivera, IA; Scholl-Buergi, S; Stepien, KM; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, Reinder; Vries, M; Waisbren, SE; Welsink-Karssies, MM; Wortmann, SB; Gautschi, M; Treacy, EP; Berry, GT
Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , IA , Scholl-Buergi , S , Stepien , KM , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , Vries , M , Waisbren , SE , Welsink-Karssies , MM , Wortmann , SB , Gautschi , M , Treacy , EP & Berry , GT 2019 , ' The natural history of classic galactosemia: lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 .
Electronic Resource
Kuiper, A; Grunewald, S; Murphy, E; Coenen, MA; Eggink, H; Zutt, R; Rubio-Gozalbo, ME; Bosch, AM; Williams, Monique; Derks, TGJ; Lachmann, RHL; Brouwers, M; Janssen, MCH; Tijssen, MA; Koning, TJ
Kuiper , A , Grunewald , S , Murphy , E , Coenen , MA , Eggink , H , Zutt , R , Rubio-Gozalbo , ME , Bosch , AM , Williams , M , Derks , TGJ , Lachmann , RHL , Brouwers , M , Janssen , MCH , Tijssen , MA & Koning , TJ 2019 , ' Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 3 , pp. 451-458 .
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[AR] Rubio-Gozalbo, ME
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