Article
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Human mutation - 1 Jan 1998
Hermans M M, Kroos M A, Smeitink J A, van der Ploeg A T, Kleijer W J, Reuser A J
Abstract excerpt
Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the characterization of the molecular defects in 6 infantile patients from Turkish ancestry. Five of the 6 patients had reduced levels of the lysosomal alpha-g...
Topics
- Animals
- COS Cells
- Cells, Cultured
- Consanguinity
- DNA Mutational Analysis
- Fibroblasts
- Glucan 1,4-alpha-Glucosidase
- Glycogen Storage Disease Type II
- Humans
- Infant
- Infant, Newborn
- Mutagenesis, Site-Directed
- Mutation
- Netherlands
- Polymorphism, Single-Stranded Conformational
- Skin
- Turkey
- alpha-Glucosidases