Hurler s Syndrome
| Title: | Hurler s Syndrome |
| URL: | http://www.patient.co.uk/showdoc/40001395/ |
| Description: | Hurler s Syndrome - Synonym: Mucopolysaccharidosis Type IH The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypes including Hurler (severe), Scheie (mild) and Hurler-Scheie (intermediate) syndromes.1 hurler s syndrome, autosomal recessive, genetic, coarse facies, gi, corneal clouding, short stature, short, inherited disorders, mucopolysaccharidosis, glycosaminoglycan, inheritance, mucopolysaccharidosis type i |
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