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FEBS Letters|September 4, 1995
A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein bindingZ Saifudeen, R J Desnick, M EhrlichClinica Chimica Acta; International Journal of Clinical Chemistry|September 1, 1990
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseasesD Schindler, T Kanzaki, R J DesnickEnzyme|January 1, 1982
Fluorometric coupled-enzyme assay for delta-aminolevulinate synthaseD F Bishop, L McBride, R J DesnickProceedings of the National Academy of Sciences of the United States of America|May 1, 1991
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patientsO Levran, R J Desnick, E H SchuchmanAmerican Journal of Human Genetics|January 1, 1987
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblottingD Fabbro, R J Desnick, G A GrabowskiGenomics|May 1, 1992
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase AR Kornreich, K H Astrin, R J DesnickBlood|October 15, 1992
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patientsO Levran, R J Desnick, E H SchuchmanJournal of Neuropathology and Experimental Neurology|September 1, 1977
Mannosidosis: pathology of the nervous systemJ H Sung, M Hayano, R J DesnickAnnals of Neurology|April 1, 1980
Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndromeA Plaitakis, W J Nicklas, R J DesnickEnvironmental Research|December 1, 1991
The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymesJ G Wetmur, G Lehnert, R J DesnickPageof 40