AM Hegarty

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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)
Keynote address: " Clinical Implications of 2-day whole genome sequencing of acutely ill infants " Prof. Comparative Genomic Hybridisation (CGH) Microarray has been available in Ireland to Paediatricians from the year 2011. Guidelines for investigation of infants and children with features of developmental delay, dysmorphic features and some cases of(More)
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