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Human Genetics|April 17, 1979
Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissuesA Kahn, M C Meienhofer, D Cottreau, et al.
The Journal of Clinical Investigation|January 1, 1987
Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysisS Gautron, D Daegelen, F Mennecier, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'L Poenaru, L Castelnau, A M Besançon, et al.
Prenatal Diagnosis|April 1, 1990
Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluidL Poenaru, C Mezard, S Akli, et al.
Biochemical and Biophysical Research Communications|June 9, 1997
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patientsM Nicolino, J P Puech, F Letourneur, et al.
Archives of Neurology|December 1, 1977
Muscle-type phosphorylase activity present in muscle cells cultured from three patients with myophosphorylase deficiencyM C Meienhofer, V Askanas, D Proux-Daegelen, et al.
Human Molecular Genetics|January 1, 1993
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patientsS Akli, J C Chomel, J M Lacorte, et al.
Human Molecular Genetics|April 10, 1999
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out miceJ E Guidotti, A Mignon, G Haase, et al.
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