Yusof Rahman

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Obesity has dramatically increased in Irish adolescents and young adults and is related to changes in physical activity and diet (1,2). Severe obesity is associated with a much earlier presentation of type 2 diabetes (3–6), as noted in Irish Caucasian patients (7). Most studies of early-onset type 2 diabetes have been in minority populations with higher(More)
There is a lack of awareness of acutely presenting inborn errors of metabolism in adults, of which the X-linked urea cycle defect ornithine transcarbamylase (OTC) deficiency is an example, many comparatively mild mutations having been identified. In male hemizygotes clinical manifestations and age at presentation vary and depend on the mutation. In female(More)
Although clinical practice guidelines (CPGs) have been suggested as a means of encapsulating best practice in evidence-based medical treatment, their usage in clinical environments has been disappointing. Criticisms of guideline representations have been that they are predominantly narrative and are difficult to incorporate into clinical information(More)
Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA) plasma concentrations, as well as the role of rare variants in a general population, has not yet been thoroughly addressed. The adipose triglyceride lipase (ATGL) is encoded by the PNPLA2 gene and catalyzes(More)
This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs. Retrospective analysis of medical records prior to March 2013, then prospective analysis until December 2015. Blinded review of brain MRIs.(More)
Diabetes Mellitus represents a heterogeneous group of metabolic disorders and its complications are associated with increased morbidity and early mortality. The explosive increase of the number of patients with diabetes, and several recommendations from milestone studies such as the United Kingdom Prospective Study (UKPDS), the Diabetes Prevention Program(More)
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