𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

✍ Scribed by I. Maire

Book ID
110313020
Publisher
Springer
Year
2001
Tongue
English
Weight
46 KB
Volume
24
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Twenty-two novel mutations in the lysoso
Twenty-two novel mutations in the lysosomal Ξ±-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
✍ Monique M.P. Hermans; Dik van Leenen; Marian A. Kroos; Clare E. Beesley; Ans T. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 282 KB πŸ‘ 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 extremes of the clinical spectrum of
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype
✍ Marian A. Kroos; Magna Van der Kraan; Otto P. Van Diggelen; Wim J. Kleijer; Arno πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 158 KB πŸ‘ 1 views

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