Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novelAGL gene mutations in the mediterranean area
β Scribed by Lucchiari, S. ;Fogh, I. ;Prelle, A. ;Parini, R. ;Bresolin, N. ;Melis, D. ;Fiori, L. ;Scarlato, G. ;Comi, G. P.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 211 KB
- Volume
- 109
- Category
- Article
- ISSN
- 0148-7299
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Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4
The autosomal recessive disorder Glycogen Storage Disease Type II (GSDII) is caused by a deficiency in the lysosomal enzyme acid -glucosidase. We have optimised a procedure to use fluorescent DNA sequencing technology to screen for mutations within the -glucosidase gene from UK patients with GSDII.
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