
eMedicine - Mucopolysaccharidosis Type IS : Article by Donald Nash, PhD †
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Mucopolysaccharidosis Type IS - The mucopolysaccharidoses (MPSs) are a group of 7 inherited lysosomal storage disorders caused by the deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs), which are complex macromolecules. The inability to degrade GAGs leads to their lysosomal accumulation and the subsequent clinical features of the disorders, which can include facial coarsening, corneal clouding, valvular heart disease, hepatosplenomegaly, and dysostosis multiplex accompanied by short stature. Mental retardation is also a feature of some of ... mucopolysaccharidosis type is, scheie syndrome, type is mucopolysaccharidosis, mps, glycosaminoglycans, gag, |
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Hurler s Syndrome
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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 |
Cataracts
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A cataract is a clouding of the natural lens, the part of the eye responsible for focusing light and producing clear, sharp images. cataracts, surgery, treatment, cloudy lens |
Facts About Cataracts [NEI Health Information]
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National Eye Institute s publication for people who are at higher risk for cataracts (clouding of the eye s lens). Encourages regular eye exams through dilated pupils." Cataracts, cataract, cataracts, cateracts, cateract, eye exams, dilated pupils clouding of the eye s lens" |