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Human Molecular Genetics|May 23, 1998
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cellsJ Guidotti, S Akli, L Castelnau-Ptakhine, et al.
Clinical Genetics|May 1, 1985
Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsyA M Besançon, L Castelnau, H Nicolesco, et al.
Biochemistry International|December 1, 1983
Protein ADP-ribosylation in rat liver cytosolH Skala, M Vibert, A Weber, et al.
Biochimica Et Biophysica Acta|October 11, 1976
Studies on the nature of different molecular forms of glucose-6-phosphate dehydrogenase purified from human leukocytesA Kahn, O Bertrand, D Cottreau, et al.
Annals of Human Genetics|October 1, 1984
DNA analysis in patients with hereditary fructose intoleranceC Grégori, C Besmond, M Odievre, et al.
Biochimica Et Biophysica Acta|January 15, 1981
Calmodulin ligands. The interaction of muscle phosphorylase kinase with phosphodiesterase. Comparison of calmodulin ligands in muscle extracts from normal and phosphorylase kinase-deficient miceA L Pichard, D Daegelen-Proux, Y Alexandre, et al.
Genomics|September 1, 1991
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragmentsS Akli, J Chelly, J M Lacorte, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|March 1, 1978
[Assessment of the myocardial infarct size and kinetic study of the necrosis process by serial determinations of creatine kinase]C Sol, J L Guy, C Junien, et al.
Human Genetics|December 1, 1996
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry diseaseD Germain, M Biasotto, M Tosi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 31, 1984
Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytesJ Magalhães, M C Sá Miranda, R Pinto, et al.
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