Mucolipidosis III (pseudo Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

H. A. Taylor, G. H. Thomas, C. S. Miller

Research output: Contribution to journalArticle

Abstract

Cultured fibroblast cells from four patients with mucolipidosis III (pseudo Hurler polydystrophy) were examined by phase contrast, dark field and electron microscopy. Both phase and dark field microscopy revealed striking abnormalities in three of these patients which were indistinguishable from those seen in mucolipidosis II (I cell disease). While electron microscopy indicated that the structural alterations found in both mucolipidosis II and III may be due to an increased storage of material within the cytoplasm, clear differences in the ultrastructural morphology were detectable between the two disorders.

Original languageEnglish (US)
Pages (from-to)388-397
Number of pages10
JournalClinical Genetics
Volume4
Issue number5
StatePublished - 1973

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Mucolipidoses
Cultured Cells
Fibroblasts
Electron Microscopy
Microscopy
Cytoplasm

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mucolipidosis III (pseudo Hurler polydystrophy) : cytological and ultrastructural observations of cultured fibroblast cells. / Taylor, H. A.; Thomas, G. H.; Miller, C. S.

In: Clinical Genetics, Vol. 4, No. 5, 1973, p. 388-397.

Research output: Contribution to journalArticle

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