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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. 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 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
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.
121 results