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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The Airway Epithelial Research Team is investigating the role of the epithelium in the development of airway diseases including asthma, cystic fibrosis and lung transplant rejection.
Research
Does commencement of a gluten- free diet improve blood glucose control in children and young people with Type 1 Diabetes and Coeliac Disease?If the gut becomes damaged it may not be able to process the foods that we eat as well as it used to. This may also affect how we look after diabetes.
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Aussi-AdDITInvestigating changes in retinopathy, aortic intima media thickness & heart rate variability, indicators of macrovascular disease & autonomic neuropathy
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Closed Loop Study – Day and Night Feasibility StudyA Closed-Loop System will potentially have a major impact upon acute and chronic complications of diabetes as well as upon their quality of life.
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Effect of blood glucose levels on the amount of glucose needed to maintain stable blood glucose levels during and after moderate intensity exercise in young people with type 1 diabetesDetermining if hyperglycaemia prior to and during exercise affects the amount of carbohydrate required to maintain stable glucose levels during/after exercise