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The Journal of Biological Chemistry|June 5, 1990
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich geneR Kornreich, D F Bishop, R J DesnickHuman Mutation|January 1, 1996
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase geneW Xu, K H Astrin, R J DesnickJournal of the Neurological Sciences|September 1, 1995
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiencyD E Wolfe, D Schindler, R J DesnickThe Journal of Clinical Investigation|August 1, 1991
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduriaT Kanzaki, A M Wang, R J DesnickThe Journal of Clinical Investigation|September 1, 1991
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patientsO Levran, R J Desnick, E H SchuchmanNature|November 1, 1979
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?M B Fiddler, D Vine, E Shapira, et al.The Journal of Clinical Investigation|August 1, 1994
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduriaA M Wang, T Kanzaki, R J DesnickGenomics|April 10, 1995
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7W Xu, C A Kozak, R J DesnickJournal of Lipid Research|January 1, 1970
A method for the quantitative determination of neutral glycosphingolipids in urine sedimentR J Desnick, C C Sweeley, W KrivitThe Journal of Clinical Investigation|February 1, 1995
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase geneW Xu, C A Warner, R J DesnickPageof 40