Targeted-population screening for mucopolysaccharidoses: Results of the assessment of >9000 samples

Mucopolysaccharidosis type I (Hurler) and IIIA (Sanfilippo A) are metabolic storage disorders. They result from mutations in IDUA and SGSH genes located on chromosomes 4 and 17, respectively. In order to determine the genetic background's effect on the severity of Hurler syndrome in Moroccan patients and to establish its state in controls, R105Q, N297, A314, IVS12+72 t>g, and IVS12+75 g>t polymorphisms in the IDUA gene are searched for by direct...