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583 results
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Enzyme replacement and enhancement therapies for lysosomal diseases.
Desnick RJ. Desnick RJ. J Inherit Metab Dis. 2004;27(3):385-410. doi: 10.1023/B:BOLI.0000031101.12838.c6. J Inherit Metab Dis. 2004. PMID: 15190196 Review.
Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1.
Jackson CE, Yuhki N, Desnick RJ, Haskins ME, O'Brien SJ, Schuchman EH. Jackson CE, et al. Among authors: desnick rj. Genomics. 1992 Oct;14(2):403-11. doi: 10.1016/s0888-7543(05)80233-2. Genomics. 1992. PMID: 1427856
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Jin WD, Jackson CE, Desnick RJ, Schuchman EH. Jin WD, et al. Among authors: desnick rj. Am J Hum Genet. 1992 Apr;50(4):795-800. Am J Hum Genet. 1992. PMID: 1550123 Free PMC article.
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
Desnick RJ, Wang AM. Desnick RJ, et al. J Inherit Metab Dis. 1990;13(4):549-59. doi: 10.1007/BF01799512. J Inherit Metab Dis. 1990. PMID: 2122121 Review.
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.
Schindler D, Kanzaki T, Desnick RJ. Schindler D, et al. Among authors: desnick rj. Clin Chim Acta. 1990 Sep;190(1-2):81-91. doi: 10.1016/0009-8981(90)90282-w. Clin Chim Acta. 1990. PMID: 2208741
Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII.
Schuchman EH, Toroyan TK, Haskins ME, Desnick RJ. Schuchman EH, et al. Among authors: desnick rj. Enzyme. 1989;42(3):174-80. doi: 10.1159/000469027. Enzyme. 1989. PMID: 2515056
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.
Schindler D, Bishop DF, Wolfe DE, Wang AM, Egge H, Lemieux RU, Desnick RJ. Schindler D, et al. Among authors: desnick rj. N Engl J Med. 1989 Jun 29;320(26):1735-40. doi: 10.1056/NEJM198906293202606. N Engl J Med. 1989. PMID: 2733734 No abstract available.
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
Schuchman EH, Desnick RJ. Schuchman EH, et al. Among authors: desnick rj. J Clin Invest. 1988 Jan;81(1):98-105. doi: 10.1172/JCI113317. J Clin Invest. 1988. PMID: 3121676 Free PMC article.
Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy.
Pastores GM, Hermann G, Norton K, Desnick RJ. Pastores GM, et al. Among authors: desnick rj. Pediatr Radiol. 1995;25(6):486-7. doi: 10.1007/BF02019078. Pediatr Radiol. 1995. PMID: 7491212
Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.
Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Yeyati PL, et al. Among authors: desnick rj. Hum Gene Ther. 1995 Aug;6(8):975-83. doi: 10.1089/hum.1995.6.8-975. Hum Gene Ther. 1995. PMID: 7578419
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