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The Journal of Biological Chemistry|February 15, 1987
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry diseaseP Lemansky, D F Bishop, R J Desnick, et al.
Archives of Dermatology|April 1, 1993
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studiesT Kanzaki, M Yokota, F Irie, et al.
The Journal of Clinical Investigation|November 1, 1994
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzymeC H Chen, K H Astrin, G Lee, et al.
American Journal of Human Genetics|July 1, 1984
Frequency of reactivation and variability in expression of X-linked enzyme lociT Mohandas, R S Sparkes, D F Bishop, et al.
Pediatric Research|October 1, 1984
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VIIM E Haskins, R J Desnick, N DiFerrante, et al.
The Journal of Biological Chemistry|January 25, 2000
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine geneG I Aizencang, D F Bishop, D Forrest, et al.
The Journal of Clinical Investigation|March 17, 1999
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher diseaseM E Grace, P Ashton-Prolla, G M Pastores, et al.
American Heart Journal|December 1, 1980
The M-mode echocardiogram in Fabry's diseaseJ L Bass, S Shrivastava, G A Grabowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 1, 1982
Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysisG J Darlington, K H Astrin, S P Muirhead, et al.
Progress in Clinical and Biological Research|January 1, 1982
Gaucher disease: a membranous enzymopathyR J Desnick, G A Grabowski, T Dinur, et al.
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