Epidemiology and screening policy

Peter J. Meikle, Maria Fuller, John Hopwood

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

10 Citations (Scopus)

Abstract

Gaucher disease is one of many Mendelian disorders, and although monogenic, the variability in clinical presentation presents a complex picture. Further to this complexity, very little is known about the pathogenesis of the disease. In this respect Gaucher disease is not alone; it belongs to a group of over 50 single gene disorders in which the mechanisms of pathology are poorly understood. These are collectively known as lysosomal storage disorders (LSD), a group of inherited metabolic disorders resulting from a deficiency of any one of a number of lysosomal enzymes or in a few instances from a deficiency of other proteins affecting the lysosome biogenesis or function.

Original languageEnglish
Title of host publicationGaucher Disease
PublisherCRC Press
Pages321-340
Number of pages20
ISBN (Electronic)9781420005509
ISBN (Print)9780849338168
DOIs
Publication statusPublished - 1 Jan 2006
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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