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Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Demirbas D, et al. Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Metabolism. 2018. PMID: 29409891 Review.
Bone metabolism in galactosemia.
Panis B, Forget PP, van Kroonenburgh MJ, Vermeer C, Menheere PP, Nieman FH, Rubio-Gozalbo ME. Panis B, et al. Bone. 2004 Oct;35(4):982-7. doi: 10.1016/j.bone.2004.06.004. Bone. 2004. PMID: 15454106
Untreated classical galactosemia patient with mild phenotype.
Panis B, Bakker JA, Sels JP, Spaapen LJ, van Loon LJ, Rubio-Gozalbo ME. Panis B, et al. Mol Genet Metab. 2006 Nov;89(3):277-9. doi: 10.1016/j.ymgme.2006.03.002. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621642
Growth in treated classical galactosemia patients.
Panis B, Gerver WJ, Rubio-Gozalbo ME. Panis B, et al. Eur J Pediatr. 2007 May;166(5):443-6. doi: 10.1007/s00431-006-0255-4. Epub 2006 Sep 22. Eur J Pediatr. 2007. PMID: 17024348
Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone.
Gubbels CS, Kuppens SM, Bakker JA, Konings CJ, Wodzig KW, de Sain-van der Velden MG, Menheere PP, Rubio-Gozalbo ME. Gubbels CS, et al. Fertil Steril. 2009 Apr;91(4):1293.e13-6. doi: 10.1016/j.fertnstert.2008.12.031. Epub 2009 Feb 7. Fertil Steril. 2009. PMID: 19200962 Free article.
FSH isoform pattern in classic galactosemia.
Gubbels CS, Thomas CM, Wodzig WK, Olthaar AJ, Jaeken J, Sweep FC, Rubio-Gozalbo ME. Gubbels CS, et al. J Inherit Metab Dis. 2011 Apr;34(2):387-90. doi: 10.1007/s10545-010-9180-9. Epub 2010 Sep 3. J Inherit Metab Dis. 2011. PMID: 20814826 Free PMC article.
Psychosocial developmental milestones in men with classic galactosemia.
Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME, Grootenhuis MA. Gubbels CS, et al. J Inherit Metab Dis. 2011 Apr;34(2):415-9. doi: 10.1007/s10545-011-9290-z. Epub 2011 Feb 25. J Inherit Metab Dis. 2011. PMID: 21350966 Free PMC article.
121 results