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American Journal of Medical Genetics|January 1, 1979
Inborn errors of lysosomal catabolism--principles of heterozygote detectionR D Jolly, R J DesnickThe Journal of Clinical Investigation|January 1, 1988
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activitiesE H Schuchman, R J DesnickThe Journal of Biological Chemistry|February 10, 1981
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other formsD F Bishop, R J DesnickAnnual Review of Genomics and Human Genetics|September 14, 2012
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challengesR J Desnick, E H SchuchmanHuman Mutation|January 1, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A geneC M Eng, R J DesnickAnalytical Biochemistry|May 1, 1983
Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assayP F Giampietro, R J DesnickAdvances in Genetics|October 13, 2001
Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseasesC M Eng, R J DesnickHuman Mutation|January 1, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase geneK H Astrin, R J DesnickJournal of Inherited Metabolic Disease|January 1, 1990
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiencyR J Desnick, A M WangPageof 30