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Lafora disease is a rare inborn error of metabolism resulting in storage of a polyglucosan in tissues including the brain, skin and liver. Four children are described with progressive myoclonus epilepsy and intellectual deterioration in whom this diagnosis was made. In two the diagnosis was confirmed by the presence of periodic acid schiff (PAS) positive,(More)
OBJECTIVE To find a simple definition of partial remission in type 1 diabetes that reflects both residual beta-cell function and efficacy of insulin treatment. RESEARCH DESIGN AND METHODS A total of 275 patients aged <16 years were followed from onset of type 1 diabetes. After 1, 6, and 12 months, stimulated C-peptide during a challenge was used as a(More)
The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice(More)
OBJECTIVE It is unclear whether the demands of good metabolic control or the consequences of poor control have a greater influence on quality of life (QOL) for adolescents with diabetes. This study aimed to assess these relations in a large international cohort of adolescents with diabetes and their families. RESEARCH DESIGN AND METHODS The study involved(More)
OBJECTIVE Twenty-one international pediatric diabetes centers from 17 countries investigated the effect of simple feedback about the grand mean HbA(1c) level of all centers and the average value of each center on changes in metabolic control, rate of severe hypoglycemia, and insulin therapy over a 3-year period. RESEARCH DESIGN AND METHODS Clinical data(More)
OBJECTIVES Carnitine palmitoyltransferase (CPT) deficiency is one of the most common defects of mitochondrial fatty acid oxidation. Two different enzymes (CPT-I and CPT-II) are involved. Due to problems in measuring enzyme activity, relatively little is known about the substrate specificity of each of the human enzymes. This is of considerable importance in(More)
BACKGROUND Previous surveys of children's diabetes service provision in the UK have shown gradual improvements but continuing deficiencies. AIM To determine whether further improvements in services have occurred. METHODS A questionnaire was mailed to all paediatricians in the UK identified as providing care for children and adolescents with diabetes.(More)
There are a number of tests available for assessment of anterior pituitary hormone function. Recent concern has centred on the use of provocative tests for growth hormone release and in particular the glucagon and insulin induced hypoglycaemia or insulin tolerance test (ITT). These tests have been associated with cerebral oedema and death of at least two(More)
A national survey of 509 parents of children with newly diagnosed diabetes elicited a 92% response rate, showing that 96% of children were admitted to hospital, 42% staying in hospital longer than one week and 41% received an intravenous infusion. More than 90% of parents expressed satisfaction with the information given at diagnosis, the preparation they(More)