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mucopolysaccharidosis

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lysosome enzyme glycosaminoglycan metabolism genetics mutation protein sugar carbohydrate saccharide mucus chondroitin heparan dermatan deficiency storage disease disorder syndrome hereditary autosomal recessive dominant chromosome allele phenotype genotype skeletal dysplasia joint cartilage bone stiffness hypertrophy hepatomegaly splenomegaly cornea opacity blindness hearing deafness cognition intellect development retardation neurology pediatrics biochemistry pathology diagnosis screening biopsy therapy treatment replacement transplant infusion substrate catalyst hydrolysis cleavage accumulation toxicity vacuole inclusion cell tissue plasma urine biomarker

Last Updated: July 7, 2026•Report an Error

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