Paediatrics: Recent submissions
Now showing items 41-44 of 44
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
(2014)We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. ... -
Fertility preservation in female classic galactosemia patients
(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?
(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 ...
