Galaktosämie

Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA. Remarkable differences: the course of life of young adults with galactosaemia and PKU.J Inherit Metab Dis (2009) 32: 706-712.
Gubbels CS, Kuppens SM, Bakker JA, Konings CJ, Wodzig KW, de Sain-van der Velden MG, Menheere PP, Rubio-Gozalbo ME. Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone. Fertil Steril (2009) 91:1293.
Schadewaldt P, Hammen HW, Kamalanathan L, Wendel U, Schwarz M, Bosch AM, Guion N, Janssen M, Boers GH. Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia–and review of the literature. Eur J Pediatr (2009) 168:721-9.
Sanders RD, Spencer JB, Epstein MP, Pollak SV, Vardhana PA, Lustbader JW, Fridovich-Keil JL. Biomarkers of ovarian function in girls and women with classic galactosemia. Fertil Steril (2009) 92:344-51.
Dubroff JG, Ficicioglu C, Segal S, Wintering NA, Alavi A, Newberg AB. FDG-PET findings in patients with galactosaemia J Inherit Metab Dis (2008) 31:533-9.
Knauff EA, Richardus R, Eijkemans MJ, Broekmans FJ, de Jong FJ, Fauser BC, Bosch AM. Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age. Reprod Sci (2007) 14:780-5.
Ohlsson A, Nasiell J, von Döbeln U. Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W. J Inherit Metab Dis (2007) 30:105.

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