Clinical manifestation of Hurler syndrome in a 7 year old child
Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of inc...
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Wolters Kluwer Medknow Publications,
2012-01-01T00:00:00Z.
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