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 he due to an increased storage of material within the cytoplasm, clear differences in the ultrastructural morphology were detectable between the two disorders.
Original language | English (US) |
---|---|
Pages (from-to) | 388-397 |
Number of pages | 10 |
Journal | Clinical Genetics |
Volume | 4 |
Issue number | 5 |
DOIs | |
State | Published - Sep 1973 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)