Browsing Paediatrics (Scholarly Publications) by Author "TREACY, EILEEN"
Now showing items 1-3 of 3
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Clinical Utility Gene Card for Trimethylaminuria-update 2014
TREACY, EILEEN (2014) -
Fertility preservation in female classic galactosemia patients
TREACY, EILEEN (2013)Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are ... -
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?
TREACY, EILEEN (2014)Classical Galactosaemia is a rare disorder of carbohydrate metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). The disease is life-threatening in the neonate, and the only treatment option ...