Pfaundler-Hurler Syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0086795

NCI: An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.

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