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Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the X linked MECP2 gene have been identified in patients with(More)
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene specifies a 403-amino acid protein containing a homeodomain preceded by a very highly conserved 82-amino acid domain of unknown function; the remainder of the protein is not well conserved. Here we(More)
PURPOSE To describe the MR imaging findings in five children with proved L-carnitine deficiency. METHODS MR imaging studies (five without contrast, two with contrast) were obtained in five children (mean age, 9 years) who presented with stroke symptoms and who proved to have L-carnitine deficiency as established by serum levels. RESULTS In three of five(More)
Background and objectives: COPD Guidelines recommend that programmes of pulmonary rehabilitation (PR) are tailored to individuals to improve symptoms, quality of life and self management. Accessing PR is dependent on travelling to classes. Many people, who live in rural areas, are socially isolated, or who live with severe disease that reduces mobility, are(More)
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