Pathophysiology of impaired ovarian function in galactosaemia.

@article{Forges2006PathophysiologyOI,
  title={Pathophysiology of impaired ovarian function in galactosaemia.},
  author={Thierry Forges and Patr{\'i}cia Monnier-Barbarino and Bruno Leheup and Philippe Jouvet},
  journal={Human reproduction update},
  year={2006},
  volume={12 5},
  pages={
          573-84
        }
}
Classical galactosaemia is an inherited inborn error of the major galactose assimilation pathway, caused by galactose-1-phosphate uridyltransferase (GALT) deficiency. Many GALT mutations have been described, with different clinical consequences. In severe forms, newborns present with a life-threatening, acute toxic syndrome that rapidly regresses under a galactose-restricted diet. However, long-term complications, particularly cognitive and motor abnormalities, as well as hypergonadotrophic… CONTINUE READING

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