Show Summary Details
Page of

Enzyme defects and the skeleton 

Enzyme defects and the skeleton
Chapter:
Enzyme defects and the skeleton
Author(s):

Roger Smith

and Paul Wordsworth

DOI:
10.1093/med/9780199607990.003.0014
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2016. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 28 January 2020

Enzyme gene mutations which have a major effect on the skeleton are homocystinuria, hypophosphatemia, and alkaptonuria. Many other mutations include those of osteoclast acidification (osteopetrosis), collagen synthesis (OI), lα‎ hydroxylation of 25OHD (VDDR type 1), and mucopolysaccharide breakdown.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.