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Transfer of a foreign gene into the brain using adenovirus vectors
Adenovirus vectors appear to be a promising means for in vivo transfer of therapeutic genes into the central nervous system. Expand
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
It is demonstrated that intravenous co-administration of adenoviral vectors coding for both alpha- and beta-subunits, resulting in preferential liver transduction, was essential to obtain the most successful results and confirmed that the liver was the preferential target organ to deliver a large amount of secreted proteins. Expand
Juvenile and adult-onset acid maltase deficiency in France
Although onset of progressive muscle weakness occurred during adulthood in all cases but one, presence of mild, nonprogressive muscular symptoms appearing during childhood was detected in 16 patients, and the absence of genotype–phenotype correlation suggests a complex physiopathology that requires further investigations. Expand
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
The study is aimed at a description of adolescents' present opinions about genetic risk information, prenatal diagnosis, and genetic testing. Expand
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
The results of these studies are consistent with a significant bottleneck occurring in the AJ population during the first millennium, when the population became established in Europe. Expand
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations
A high prevalence of type 1 among Romanian GD patients is indicated and the particularities of genotype–phenotype correlations may suggest the impact of other genetic or non-genetic factors on the clinical picture. Expand
Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts
The bicistronic lentivector supplying both alpha- and beta-subunits of beta-hexosaminidases may provide a potential therapeutic tool for the treatment of Sandhoff disease. Expand
Gene delivery into the central nervous system by nasal instillation in rats.
It is demonstrated that it is possible to transfer the Escherichia coli lacZ gene in vivo into the central nervous system structures of rats after nasal instillation of replication-defective adenoviral vector AdRSV beta gal. Expand
Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction
ENOS gene polymorphism represent a frequent risk factor for vascular abnormalities in CHD, HT and Fabry's disease, afflictions which have in common, the endothelial dysfunction and the frequency of eNOSG894T is high in Fabry hemizygotes with renal complications. Expand
First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community
This paper presents the collected data concerning First Trimester Prenatal Diagnosis of Metabolic Diseases performed in different countries of the European Community by enzymatic methods usingExpand