Browsing Paediatrics (Scholarly Publications) by Subject "Genomics"
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Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?
(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 ...