Mucopolysaccharides in osteochondrodysplasias

G. L. Francis, E. Feng, O. M. Rennert

Research output: Contribution to journalArticlepeer-review

Abstract

Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.

Original languageEnglish (US)
Pages (from-to)376-382
Number of pages7
JournalClinical Genetics
Volume16
Issue number6
DOIs
StatePublished - 1979
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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