𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene

✍ Scribed by Marian A Kroos; Dik van Leenen; Jan Verbiest; Arnold JJ Reuser; Monique MP Hermans


Book ID
110887785
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
391 KB
Volume
53
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


The identification of five novel mutatio
✍ Clare E. Beesley; Anne H. Child; Magdi H. Yacoub 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 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.

Twenty-two novel mutations in the lysoso
✍ Monique M.P. Hermans; Dik van Leenen; Marian A. Kroos; Clare E. Beesley; Ans T. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 1 views

## Communicated by Elizabeth Neufeld Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid a-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investiga

Two mutations affecting the transport an
✍ Monique M. P. Hermans; Marian A. Kroos; Esther De Graaff; Ben A. Oostra; Arnold 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 503 KB

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

Glycogen storage disease type IIIa: firs
✍ Minoru Okubo; Fumio Kanda; Asako Horinishi; Keiichi Takahashi; Shiho Okuda; Kazu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

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