PP-205: CARDIAC INVOLVEMENT IN GLYCOGEN STORAGE DISEASE TYPE IV: TWO CASES AND THE TWO ENDS OF A SPECTRUM
โ Scribed by T. Aksu; S. Shukri; A. Colak; T. Sen; O. Tufekcioglu
- Book ID
- 117354302
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 560 KB
- Volume
- 147
- Category
- Article
- ISSN
- 0167-5273
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with onset of symptoms shortly after birth. The grandfat
The autosomal recessive glycogen storage disease type I1 is associated with a deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal a-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitut
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog