Mucolipidoses

Published

Book Section

© 2008 by Informa Healthcare USA, Inc. First delineated by Spranger and Wiedemann (36) in 1970, the seven or eight entities originally described shared clinical and radiographical features of both the mucopolysaccharidoses (MPSs) (see Chapter 40) and the sphingolipidoses (see Chapter 41); hence, the name mucolipidosiswas proposed. Excessive storage of lipids as well as complex carbohydrates in many of the mucolipidoses finds its expression in profound ultrastructural changes at the cellular level in both neural and visceral tissues. In the eye, both cornea and neural retina are affected to varying degrees in all these disorders.

Duke Authors

Cited Authors

  • Koeberl, DD

Published Date

  • January 1, 2007

Book Title

  • Garner and Klintworth's Pathobiology of Ocular Disease Part B, Third Edition

Start / End Page

  • 941 - 952

International Standard Book Number 10 (ISBN-10)

  • 142007976X

International Standard Book Number 13 (ISBN-13)

  • 9781420079760

Citation Source

  • Scopus