Article
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent.
Pediatric research - 1 Jun 1995
Goldin E, Blanchette-Mackie E J, Dwyer N K, Pentchev P G, Brady R O
Abstract excerpt
Mucolipidosis 4 (ML4) is an autosomal recessive disorder with both lipid and mucopolysaccharide storage. The disease is characterized by severe visual impairment and psychomotor retardation. In our effort to find a phenotypic marker for ML4 fibroblasts, living cells were stained with fluorescent compounds. The staining pattern in cells was complicated by autofluorescence. A careful study revealed that...
Topics
- Biomarkers
- Cells, Cultured
- Fibroblasts
- Fluorescence
- Humans
- Microscopy, Fluorescence
- Mucolipidoses
- Mutation
- Skin