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Biomedicine / [Publiee Pour L'A.A.I.C.I.G.]|May 1, 1981
Effect of bacterial endotoxin on lysosomal enzyme activities of normal and mucolipidosis III fibroblastsP Di Natale, M Stabile, L Ronsisvalle, et al.Biochemical and Biophysical Research Communications|February 13, 2001
Heparan N-sulfatase: in vitro mutagenesis of potential N-glycosylation sitesP Di Natale, B Vanacore, A Daniele, et al.Enzyme|January 1, 1985
Biosynthesis of alpha-N-acetylglucosaminidase in cultured human kidney carcinoma cellsP Di Natale, D Salvatore, A Daniele, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 15, 1989
Biochemical diagnosis of Hunter syndrome on Epstein-Barr virus-transformed lymphoblastoid cell linesE Morabito, I Giambarrasi, M Rocchi, et al.Biochemical and Biophysical Research Communications|August 16, 1993
The mouse iduronate sulfatase gene: identification of a novel transcriptA Daniele, T Russo, A Ballabio, et al.Prenatal Diagnosis|May 1, 1986
Prenatal diagnosis of Hunter syndrome using chorionic villiN Pannone, R Gatti, C Lombardo, et al.Proceedings of the National Academy of Sciences of the United States of America|October 1, 1982
Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs diseaseR L Proia, E F NeufeldMolecular and Cellular Biology|July 21, 2001
Nonsense-mediated decay of human HEXA mRNAK S Rajavel, E F NeufeldThe Journal of Biological Chemistry|August 5, 1990
A cystic fibrosis phenotype in cells cultured from sweat gland secretory coil. Altered kinetics of 36Cl effluxL C Wood, E F NeufeldThe Journal of Biological Chemistry|December 15, 1989
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidaseM M Lau, E F NeufeldPageof 12