Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p
Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis
โ Scribed by E. Barkaoui; W. Cherif; N. Tebib; C. Charfeddine; F. Ben Rhouma; H. Azzouz; A. Ben Chehida; K. Monastiri; J. Chemli; F. Amri; H. Ben Turkia; M. S. Abdelmoula; N. Kaabachi; S. Abdelhak; M. F. Ben Dridi
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 149 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0141-8955
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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20
We have devised an allele-specific amplification method with a TaqMan fluorogenic probe (TaqMan-ASA) for the detection of point mutations. Pairwise PCR amplification using two sets of allele-specific primers in the presence of a TaqMan probe was monitored in real time with a fluorescence detector. D