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Page 1
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.
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group. Demirdas S, et al. Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37. Orphanet J Rare Dis. 2013. PMID: 23442887 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. 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.
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
Ovarian function in girls and women with GALT-deficiency galactosemia.
Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Fridovich-Keil JL, et al. J Inherit Metab Dis. 2011 Apr;34(2):357-66. doi: 10.1007/s10545-010-9221-4. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978943 Free PMC article. Review.
Skeletal health in adult patients with classic galactosemia.
Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, Guo CY, Rubio-Gozalbo E, Berry G, Gordon CM. Batey LA, et al. Osteoporos Int. 2013 Feb;24(2):501-9. doi: 10.1007/s00198-012-1983-0. Epub 2012 Apr 19. Osteoporos Int. 2013. PMID: 22525982
Fatal cerebral edema associated with serine deficiency in CSF.
Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM. Keularts IM, et al. Among authors: rubio gozalbo em. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19. J Inherit Metab Dis. 2010. PMID: 20300853 Free PMC article.
21 results