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Investigative Ophthalmology & Visual Science|February 1, 1985
Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VIL Stramm, M Haskins, R J Desnick, et al.Analytical Biochemistry|October 1, 1987
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyriaS F Tsai, D F Bishop, R J DesnickAmerican Journal of Obstetrics and Gynecology|July 1, 1986
Acceptability of chorionic villi sampling for prenatal diagnosisM M McGovern, J D Goldberg, R J DesnickThe Journal of Biological Chemistry|January 25, 1987
Purification and properties of uroporphyrinogen III synthase from human erythrocytesS F Tsai, D F Bishop, R J DesnickAnalytical Biochemistry|January 27, 1999
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunitK M Zeidner, R J Desnick, Y A IoannouEnzyme|January 1, 1980
Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liverG A Grabowski, J U Ikonne, R J DesnickJournal of Korean Medical Science|February 1, 1993
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening programH W Yoo, K H Astrin, R J DesnickAmerican Journal of Medical Genetics|August 28, 1995
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptideG Y Lee, K H Astrin, R J DesnickNature Genetics|June 1, 1995
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mappingB D Gelb, J G Edelson, R J DesnickBiochimica Et Biophysica Acta|August 7, 1980
Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissuesB Shafit-Zagardo, E A Devine, R J DesnickPageof 40