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The natural history of classic galactosemia: lessons from the GalNet registry.
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, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. Rubio-Gozalbo ME, et al. Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z. Orphanet J Rare Dis. 2019. PMID: 31029175 Free PMC article.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM, van Harskamp D, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, Kemper EM, Langendonk JG, Rubio-Gozalbo ME, de Vries MC, Wijburg FA, Schierbeek H, Bosch AM. Welsink-Karssies MM, et al. J Inherit Metab Dis. 2020 May;43(3):507-517. doi: 10.1002/jimd.12207. Epub 2020 Jan 22. J Inherit Metab Dis. 2020. PMID: 31845337 Free PMC article.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM. Welsink-Karssies MM, et al. Mol Genet Metab. 2020 Mar;129(3):171-176. doi: 10.1016/j.ymgme.2020.01.002. Epub 2020 Jan 9. Mol Genet Metab. 2020. PMID: 31954591 Free article.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: welsink karssies mm. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Zeltner NA, Welsink-Karssies MM, Landolt MA, Bosshard-Bullinger D, Keller F, Bosch AM, Groenendijk M, Grünert SC, Karall D, Rettenbacher B, Scholl-Bürgi S, Baumgartner MR, Huemer M. Zeltner NA, et al. Among authors: welsink karssies mm. Orphanet J Rare Dis. 2019 Nov 8;14(1):248. doi: 10.1186/s13023-019-1236-9. Orphanet J Rare Dis. 2019. PMID: 31703595 Free PMC article.
14 results