Victor A. McKusick, M.D.; Edward C. Reifenstein, M.D.
McKusick VA, Reifenstein EC. The Mucopolysaccharidoses.. Ann Intern Med. 1964;60:739-740. doi: 10.7326/0003-4819-60-4-739_3
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Published: Ann Intern Med. 1964;60(4):739-740.
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The Hurler syndrome or gargoylism, has been demonstrated to be an inborn disturbance of mucopolysaccharide metabolism. Clinical and genetic studies permit differentiation of at least two forms: (1) an autosomal recessive variety (type I mucopolysaccharidosis), which is clinically severe and always associated with corneal clouding; (2) an X-linked recessive variety (type II mucopolysaccharidosis), which is milder and in which corneal clouding does not occur. These two varieties are biochemically indistinguishable; that is, both excrete excessive amounts of chondroitin sulfate B and heparitin sulfate in the urine.
It is the purpose of this report to describe the clinical, genetic, and biochemical
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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