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113 results

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Page 1
Fertility preservation in female classic galactosemia patients.
van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME. van Erven B, et al. Among authors: treacy ep. Orphanet J Rare Dis. 2013 Jul 16;8:107. doi: 10.1186/1750-1172-8-107. Orphanet J Rare Dis. 2013. PMID: 23866841 Free PMC article. Review.
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: treacy ep. 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.
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: treacy ep. 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.
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Hollak CE, et al. Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5. Orphanet J Rare Dis. 2016. PMID: 26809514 Free PMC article.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: treacy ep. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.
van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM. van Erven B, et al. Among authors: treacy ep. JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20. JIMD Rep. 2017. PMID: 27995581 Free PMC article.
The galactosemia network (GalNet).
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives. Rubio-Gozalbo ME, et al. Among authors: treacy ep. J Inherit Metab Dis. 2017 Mar;40(2):169-170. doi: 10.1007/s10545-016-9989-y. Epub 2016 Nov 11. J Inherit Metab Dis. 2017. PMID: 27837294 No abstract available.
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. Among authors: treacy ep. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: treacy ep. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
113 results