Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.
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Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.
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Wikipedia was cited in a peer-reviewed, published article on mucopolysaccharidosis enzyme-replacement therapy.
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Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
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The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
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A medical condition known as mucopolysaccharidosis type IV, which he described, was named Morquio syndrome in his honor.
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An arylsulfatase B deficiency can lead to an accumulation of GAGs in lysosomes, which in turn can lead to mucopolysaccharidosis VI.
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Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID ( Sanfilippo D syndrome ).
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Escolar has particular expertise in Krabbe disease but also sees patients with other neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders.
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Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome.
