Cholesterol Synthesis Defects View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2018-10-04

AUTHORS

Francis Lam , Oliver Clifford-Mobley

ABSTRACT

The phenotype of some inborn errors of cholesterol biosynthesis may present with symptoms suggestive of adrenal or gonadal steroid disorders. An overview of cholesterol biosynthesis is presented with more in-depth coverage of two disorders in which a urine steroid profile can play a role in the diagnosis: cytochrome P450 oxidoreductase deficiency and Smith-Lemli-Opitz syndrome. More... »

PAGES

137-146

Book

TITLE

Disorders of Steroidogenesis

ISBN

978-3-319-96363-1
978-3-319-96364-8

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-319-96364-8_14

DOI

http://dx.doi.org/10.1007/978-3-319-96364-8_14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107371405


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