Victor A. McKusick, M.D.; Edward C. Reifenstein Jr., M.D.
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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
Victor A. McKusick, Edward C. Reifenstein. 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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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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