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1دورية أكاديمية
المؤلفون: Welsink-Karssies, M.M. (M. M.), van Weeghel, M. (M.), Hollak, C.E.M. (Carla), Elfrink, H.L. (H. L.), Janssen, M.C.H. (M. C.H.), Lai, K. (K.), Langendonk, J.G. (Janneke), Oussoren, E. (Esmée), Ruiter, J.P.N. (Jos), Treacy, E.P. (E. P.), de Vries, M. (M.), Ferdinandusse, S., Bosch, A.M. (Annet)
المصدر: Molecular Genetics and Metabolism
مصطلحات موضوعية: Classical Galactosemia, Fibroblasts, GALT deficiency, Inborn error of metabolism, Residual galactose metabolism
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/123950Test; urn:hdl:1765/123950
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2دورية أكاديمية
المؤلفون: Welsink-Karssies, M.M., Ferdinandusse, S., Geurtsen, G.J., Hollak, C.E.M., Huidekoper, H.H., Janssen, M.C.H., Langendonk, J.G., van der Lee, J.H., O'Flaherty, R., Oostrom, K.J., Roosendaal, S.D., Rubio-Gozalbo, M.E., Saldova, R., Treacy, E.P., Vaz, F.M., de Vries, M.C., Engelen, M., Bosch, A.M.
المصدر: Welsink-Karssies , M M , Ferdinandusse , S , Geurtsen , G J , Hollak , C E M , Huidekoper , H H , Janssen , M C H , Langendonk , J G , van der Lee , J H , O'Flaherty , R , Oostrom , K J , Roosendaal , S D , Rubio-Gozalbo , M E , Saldova , R , Treacy , E P , Vaz , F M , de Vries , M C , Engelen , M & Bosch , A M 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes ....
مصطلحات موضوعية: children, classical galactosemia, clinical outcome, galt deficiency, glycan, igg n-glycosylation, management, mri, prognostic biomarkers, verbal dyspraxia
الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://cris.maastrichtuniversity.nl/en/publications/964c1443-969f-4b1d-8a86-c4ef50d60081Test
