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The 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 Schuchman
Proceedings 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 Schuchman
Blood|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 Schuchman
Analytical Biochemistry|June 12, 2001
An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick diseaseX He, F Chen, S Gatt, et al.
Genomics|April 1, 1989
Assignment of the feline alpha-L-iduronidase gene to chromosome D4E H Schuchman, S J O'Brien, R J Desnick
Laboratory Investigation; a Journal of Technical Methods and Pathology|September 14, 2001
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidosesC M Simonaro, M E Haskins, E H Schuchman
The 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 Desnick
Genomics|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 Desnick
The European Journal of Neuroscience|June 14, 2001
Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B diseaseJ Sarna, S R Miranda, E H Schuchman, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|July 17, 2001
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick diseaseR Dhami, X He, R E Gordon, et al.
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