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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. Among authors: spencer jb. 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.
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. Among authors: spencer jb. 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.
Modifiers of ovarian function in girls and women with classic galactosemia.
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL. Spencer JB, et al. J Clin Endocrinol Metab. 2013 Jul;98(7):E1257-65. doi: 10.1210/jc.2013-1374. Epub 2013 May 20. J Clin Endocrinol Metab. 2013. PMID: 23690308 Free PMC article.
Ovarian function in Duarte galactosemia.
Badik JR, Castañeda U, Gleason TJ, Spencer JB, Epstein MP, Ficicioglu C, Fitzgerald K, Fridovich-Keil JL. Badik JR, et al. Among authors: spencer jb. Fertil Steril. 2011 Aug;96(2):469-473.e1. doi: 10.1016/j.fertnstert.2011.05.088. Epub 2011 Jun 29. Fertil Steril. 2011. PMID: 21719007 Free PMC article.
Biomarkers of ovarian function in girls and women with classic galactosemia.
Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, Fridovich-Keil JL. Sanders RD, et al. Among authors: spencer jb. Fertil Steril. 2009 Jul;92(1):344-51. doi: 10.1016/j.fertnstert.2008.04.060. Epub 2008 Aug 5. Fertil Steril. 2009. PMID: 18684449 Free PMC article.
124 results