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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. Among authors: huidekoper hh. 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.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ. van Rijt WJ, et al. Among authors: huidekoper hh. J Inherit Metab Dis. 2019 Sep;42(5):878-889. doi: 10.1002/jimd.12147. Epub 2019 Jul 17. J Inherit Metab Dis. 2019. PMID: 31268564
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. Among authors: huidekoper hh. 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.
49 results