The full content of Annals is available to subscribers

Subscribe/Learn More  >
Abstracts |

The Mucopolysaccharidoses.

Victor A. McKusick, M.D.; and Edward C. Reifenstein Jr., M.D.
Ann Intern Med. 1964;60(4):739-740. doi:10.7326/0003-4819-60-4-739_3
Text Size: A A A
This excerpt has been provided in the absence of an abstract.

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


First Page Preview

View Large
First page PDF preview





Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).


Submit a Comment/Letter
Submit a Comment/Letter

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.


Buy Now for $42.00

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Related Articles
PubMed Articles
Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.