Article
Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic.
Archives of disease in childhood - 1 Jan 2009
Murphy A M, Lambert D, Treacy E P, O'Meara A, Lynch S A
Abstract excerpt
Mucopolysaccharidosis type 1 (MPS1) is an autosomal recessive disorder with severe, moderate and mild phenotypes: Hurler, Hurler-Scheie and Scheie syndromes. We estimated incidence (2001-2006) and prevalence (2002 census) of MPS1 in the Irish Republic (ROI) using population data, database and chart review of all live MPS1 patients attending two specialised centres. Patient genotypes, ethnicity, province of...
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