α-1,4-Glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease)
✍ Scribed by D. Seiler; R. Kelleter; H. W. Kölmel; R. Heene
- Book ID
- 112654738
- Publisher
- Springer
- Year
- 1973
- Tongue
- English
- Weight
- 223 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1420-682X
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
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.