The Mucolipidoses

Reuben Matalon, Kimberlee Michals Matalon

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PublisherElsevier Inc.
Pages365-368
Number of pages4
ISBN (Print)9780124105294, 9780124105492
DOIs
StatePublished - Nov 13 2014

Keywords

  • Glycosaminoglycan
  • Lysosomal enzyme trafficking
  • Mannose 6-phosphate
  • Mucolipin 1
  • N-acetylglu-cosaminyl-1-phosphotransferase
  • Pseudo-Hurler polydystrophy
  • Sialidoses

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Matalon, R., & Matalon, K. M. (2014). The Mucolipidoses. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition (pp. 365-368). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-410529-4.00032-2