Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

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Hurler syndrome (Mucopolysaccharidosis type I).

To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...

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ژورنال

عنوان ژورنال: Molecular Genetics and Metabolism

سال: 2015

ISSN: 1096-7192

DOI: 10.1016/j.ymgme.2015.06.002