Paediatrics (Scholarly Publications): Recent submissions
Now showing items 21-28 of 28
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The incidence of childhood type 1 diabetes in Irealnd and the National Childhood Diabetes Register.
(2014)The incidence of Type 1 diabetes (T1D) in childhood and adolescence is increasing globally with few exceptions. To date limited conflicting data has been available regarding diabetes epidemiology in Ireland. We sought to ... -
Body fat distribution in Turner syndrome and the influence of puberty.
(2014)Girls with Turner syndrome (TS) may encounter a wide range of problems. We aim to describe the body composition and its relation to the pubertal development, in affected girls. Precocious pubarche has been found to be ... -
Turner syndrome awareness of health issues
(2014)Turner syndrome (TS) is an important cause of short stature in girls and occurs in approximately 1 in every 2000 live female births. Affected girls may also experience a wide range of problems. We aim to examine the ... -
The National Paedaitric Diabetes Register and its impact on healthcare
(2014)In the field of management it has long been recognised that effective management of any given outcome requires knowledge and control of inputs to the system. This is also true in healthcare particularly in Type 1 diabetes ... -
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 ...
