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
โฆ LIBER โฆ
Studies of uric acid metabolism in glycogen storage disease associated with gouty arthritis
โ Scribed by Smilja Jakovcic; Leif B. Sorensen
- Publisher
- John Wiley and Sons
- Year
- 1967
- Tongue
- English
- Weight
- 402 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0004-3591
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
A nonsense mutation due to a single base
โ
Jianjun Shen; Yong Bao; Yuan-Tsong Chen
๐
Article
๐
1997
๐
John Wiley and Sons
๐
English
โ 153 KB
๐ 2 views
The identification of five novel mutatio
โ
Clare E. Beesley; Anne H. Child; Magdi H. Yacoub
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 165 KB
๐ 2 views
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.