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Sweet and sour: an update on classic galactosemia.
Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Coelho AI, et al. J Inherit Metab Dis. 2017 May;40(3):325-342. doi: 10.1007/s10545-017-0029-3. Epub 2017 Mar 9. J Inherit Metab Dis. 2017. PMID: 28281081 Free PMC article. 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
Body composition in children with galactosaemia.
Panis B, Forget PP, Nieman FH, van Kroonenburgh MJ, Rubio-Gozalbo ME. Panis B, et al. J Inherit Metab Dis. 2005;28(6):931-7. doi: 10.1007/s10545-005-0189-4. J Inherit Metab Dis. 2005. PMID: 16435185
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
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.
121 results