P N Hart

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Keynote address: " Marfan syndrome and related disorders: from gene to therapy " Prof. 3 AED Pregnancy register, UK and Ireland Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The risk magnitude varies by AED exposure. We provide results from the UK and Ireland Epilepsy and Pregnancy Registers,(More)
Morquio disease (mucopolysaccharidosis type IV) is an autosomal recessive lysosomal storage disorder causing predominantly skeletal manifestations. It is caused by a deficiency of galactose-6-sulphatase. In classical Morquio disease there is extreme short stature with height being between 90 and 120 cm. We have identified 10 individuals in Northern Ireland(More)
A case report is presented of a boy with the infantile spasm syndrome beginning at eight months of age. He had a clinical course marked by increasingly severe seizures and neurological regression. After death at twenty-one months of age, autopsy of the central nervous system revealed demyelination of white matter with sparing of arcuate fibers. An earlier(More)
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