Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges von Desnick, R.J, Schuchman, E.H

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Acid ceramidase treatment enhances the outcome of autologous chondrocyte implantation in a rat osteochondral defect model von Frohbergh, M.E, Guevara, J.M, Grelsamer, R.P, Barbe, M.F, He, X, Simonaro, C.M, Schuchman, E.H

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121 CARTILAGE AND BONE DISEASE IN RATS WITH MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY DISEASE): A NEW, NATURALLY OCCURRING ANIMAL MODEL OF ARTHRITIS von Schuchman, E.H, Ge, Y, Eliyahu, E, Jepsen, K, Simonaro, C

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Acid Ceramidase Supplementation Prior to Human Sperm Cryopreservation Improves Post-Thaw Motility von McDonald, C.A, Barritt, J, Copperman, A.B, Eliyahu, E, Shtraizent, N, Schuchman, E.H

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38 Sphingoid long chain bases prevent lung infection by Pseudomonas aeruginosa von Pewzner-Jung, Y, Tabazavareh, S.T, Grassmé, H, Becker, K.A, Japtok, L, Steinmann, J, Joseph, T, Lang, S, Tümmler, B, Schuchman, E.H, Lentsch, A.B, Kleuser, B, Edwards, M.J, Futerman, A.H, Gulbins, E

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Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs von SCHUCHMAN, E. H, SUCHI, M, TAKAHASHI, T, SANDHOFF, K, DESNICK, R. J

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Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts von Quintern, L.E., Schuchman, E.H., Levran, O., Suchi, M., Ferlinz, K., Reinke, H., Sandhoff, K., Desnick, R.J.

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Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in... von TAKAHASHI, T, SUCHI, M, DESNICK, R. J, TAKADA, G, SCHUCHMAN, E. H

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WITHDRAWN: 59 Molecular mechanisms underlying joint and bone disease in the mucopolysaccharidoses (MPS) von Simonaro, Calogera, Schuchman, E.H., D Angelo, M., Haskins, M.E.

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101 Molecular mechanisms underlying joint and bone disease in the mucopolysaccharidoses (MPS) von Simonaro, Calogera, D’Angelo, M., Haskins, M.E., Schuchman, E.H.

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Mucopolysaccharidosis Type VI in Rats: Isolation of cDNAs Encoding Arylsulfatase B, Chromosomal Localization of the Gene, and Identification of the Mutation von KUNIEDA, TETSUO, SIMONARO, CALOGERA M., YOSHIDA, MIDORI, IKADAI, HIROSHI, LEVAN, GÖRAN, DESNICK, ROBERT J., SCHUCHMAN, EDWARD H.

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An Mspl polymorphism in the human acid sphingomyelinase gene (SMPD1) von Schuchman, E.H., Levran, O., Suchi, M., Desnick, R.J.

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An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1) von SCHUCHMAN, E. H, LEVRAN, O, SUCHI, M, DESNICK, R. J

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A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14 von JIN, W.-D, DESNICK, R. J, SCHUCHMAN, E. H

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Niemann-Pick Disease: A Frequent Missense Mutation in the Acid Sphingomyelinase Gene of Ashkenazi Jewish Type A and B Patients von Levran, O, Desnick, R J, Schuchman, E H

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