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The 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 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 SchuchmanActa Paediatrica Japonica : Overseas Edition|August 8, 1998
Gene therapy for genetic diseasesR J Desnick, E H SchuchmanProceedings of the National Academy of Sciences of the United States of America|May 1, 1991
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patientsO Levran, R J Desnick, E H SchuchmanThe 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 SchuchmanBlood|October 15, 1992
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patientsO Levran, R J Desnick, E H SchuchmanGenomics|April 1, 1989
Assignment of the feline alpha-L-iduronidase gene to chromosome D4E H Schuchman, S J O'Brien, R J DesnickThe Journal of Biological Chemistry|March 10, 1984
Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) formsE H Schuchman, N A Guzman, R J DesnickGenomics|January 1, 1990
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and CE H Schuchman, C E Jackson, R J DesnickEnzyme|January 1, 1984
Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake formsE H Schuchman, N A Guzman, G Takada, et al.Pageof 33