학술논문

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(예 : 2010-2015)
'학술논문' 에서 검색결과 35건 | 목록 1~10
Electronic Resource
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 , 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 , 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 , 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 , 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 , 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 , 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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