Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb
Mutation Detection in Glycogen Storage Disease Type II by RT-PCR and Automated Sequencing
β Scribed by Monique M.P. Hermans; Dik van Leenen; Marian A. Kroos; Arnold J.J. Reuser
- Book ID
- 115581316
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 205 KB
- Volume
- 241
- Category
- Article
- ISSN
- 0006-291X
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Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal a-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 a-glucosidase
Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali