Article
Fucosidosis revisited: a review of 77 patients.
American journal of medical genetics - 1 Jan 1991
Willems P J, Gatti R, Darby J K, Romeo G, Durand P, Dumon J E, O'Brien J S
Abstract excerpt
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to...
Topics
- Carbohydrate Conformation
- Carbohydrate Sequence
- DNA
- Fucosidosis
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree