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Page 1
D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
Kingma SDK, Steinbusch LKM, Aukema SM, Sinnema M, Panis B, Nicolai J, Rubio-Gozalbo E. Kingma SDK, et al. Among authors: rubio gozalbo e. Mol Genet Metab Rep. 2024 Nov 12;41:101159. doi: 10.1016/j.ymgmr.2024.101159. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39619776 Free PMC article.
Health and well-being of maturing adults with classic galactosemia.
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL. Garrett OS, et al. Among authors: rubio gozalbo e. J Inherit Metab Dis. 2025 Jan;48(1):e12786. doi: 10.1002/jimd.12786. Epub 2024 Aug 14. J Inherit Metab Dis. 2025. PMID: 39143820 Free PMC article.
Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: rubio gozalbo e. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP, Vencken S, Bosch AM, Gautschi M, Rubio-Gozalbo E, Dawson C, Nerney D, Colhoun HO, Shakerdi L, Pastores GM, O'Flaherty R, Saldova R. Treacy EP, et al. Among authors: rubio gozalbo e. JIMD Rep. 2021 Jul 22;61(1):76-88. doi: 10.1002/jmd2.12237. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485021 Free PMC article.
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
Colhoun HO, Rubio Gozalbo EM, Bosch AM, Knerr I, Dawson C, Brady J, Galligan M, Stepien K, O'Flaherty R, Catherine Moss C, Peter Barker P, Fitzgibbon M, Doran PP, Treacy EP. Colhoun HO, et al. Among authors: rubio gozalbo em. Orphanet J Rare Dis. 2018 Sep 19;13(1):164. doi: 10.1186/s13023-018-0906-3. Orphanet J Rare Dis. 2018. PMID: 30231941 Free PMC article.
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Morava E, et al. Among authors: rubio gozalbo e. J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. J Inherit Metab Dis. 2016. PMID: 27498540 No abstract available.
25 results