 |
|
Ultrastructure of Cultured Fibroblasts in I-Cell Disease
Jun Hanai, MD;
Jules Leroy, MD, PhD;
John S. O'Brien, MD
Am J Dis Child. 1971;122(1):34-38.
Abstract
Cultivated skin fibroblasts from patients with I-cell disease and one patient's parents were investigated by light and electron microscopy. Abundant membrane-bound inclusions, apparently within lysosomes, were found in cultured skin fibroblasts obtained from both patients. Light and electron microscopy demonstrated that the inclusions were PAS positive, oil red O positive, metachromatic, and osmiophilic. The inclusions were comprised of multivesicular and pleomorphic membranes, as well as homogeneous electron dense and electron translucent material. Similar morphological abnormalities were noted occasionally in cells from the patient's father. These morphologic abnormalities, persisting after many cellular generations in vitro, appear to be characteristic features of the I-cell phenotype.
Author Affiliations
La Jolla, Calif
From the Division of Neurometabolic Disorders, Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla.
Footnotes
Received for publication Feb 16, 1971; accepted March 16.
Reprint requests to Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, Calif. 92037 (Dr. O'Brien).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
Mice Lacking {alpha}/{beta} Subunits of GlcNAc-1-Phosphotransferase Exhibit Growth Retardation, Retinal Degeneration, and Secretory Cell Lesions
Gelfman et al.
IOVS 2007;48:5221-5228.
ABSTRACT
| FULL TEXT
Mixed-Lipid Storage Disorder Induced in Macrophages and Fibroblasts by Oritavancin (LY333328), a New Glycopeptide Antibiotic with Exceptional Cellular Accumulation
Van Bambeke et al.
Antimicrob. Agents Chemother. 2005;49:1695-1700.
ABSTRACT
| FULL TEXT
Inheritance, Biochemical Abnormalities, and Clinical Features of Feline Mucolipidosis II: The First Animal Model of Human I-Cell Disease
Mazrier et al.
J Hered 2003;94:363-373.
ABSTRACT
| FULL TEXT
'Salla Disease' A New Lysosomal Storage Disorder
Aula et al.
Arch Neurol 1979;36:88-94.
ABSTRACT
I-Cell Disease: Report of Three Cases
Terashima et al.
Arch Pediatr Adolesc Med 1975;129:1083-1090.
ABSTRACT
ULTRASTRUCTURE OF METACHROMATIC FIBROBLASTS
TENCONI et al.
Arch Pediatr Adolesc Med 1972;124:296-297.
ABSTRACT
|
