Acid sphingomyelinase-deficient Niemann-Pick disease: Novel findings in a Greek child
Fotoulaki, M, Schuchman, E. H, Simonaro, C. M, Augoustides-Savvopoulou, P, Michelakakis, H, Panagopoulou, P, Varlamis, G, Nousia-Arvanitakis, S
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
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Acid ceramidase treatment enhances the outcome of autologous chondrocyte implantation in a rat osteochondral defect model
Frohbergh, M.E, Guevara, J.M, Grelsamer, R.P, Barbe, M.F, He, X, Simonaro, C.M, Schuchman, E.H
Published in Osteoarthritis and cartilage (01.04.2016)
Published in Osteoarthritis and cartilage (01.04.2016)
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Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation
SIMONARO, C. M, HASKINS, M. E, ABKOWITZ, J. L, BROOKS, D. A, HOPWOOD, J. J, ZHANG, J, SCHUCHMAN, E. H
Published in Gene therapy (1999)
Published in Gene therapy (1999)
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Journal Article
Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease
Simonaro, Calogera M., Park, Jae-Ho, Eliyahu, Efrat, Shtraizent, Nataly, McGovern, Margaret M., Schuchman, Edward H.
Published in American journal of human genetics (01.05.2006)
Published in American journal of human genetics (01.05.2006)
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Journal Article
The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations
Simonaro, Calogera M., Desnick, Robert J., McGovern, Margaret M., Wasserstein, Melissa P., Schuchman, Edward H.
Published in American journal of human genetics (01.12.2002)
Published in American journal of human genetics (01.12.2002)
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Journal Article
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 Mucopolysaccharidoses
Simonaro, Calogera M, Haskins, Mark E, Schuchman, Edward H
Published in Laboratory investigation (01.09.2001)
Published in Laboratory investigation (01.09.2001)
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Journal Article
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
Miranda, S R, He, X, Simonaro, C M, Gatt, S, Dagan, A, Desnick, R J, Schuchman, E H
Published in The FASEB journal (01.10.2000)
Published in The FASEB journal (01.10.2000)
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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
KUNIEDA, TETSUO, SIMONARO, CALOGERA M., YOSHIDA, MIDORI, IKADAI, HIROSHI, LEVAN, GÖRAN, DESNICK, ROBERT J., SCHUCHMAN, EDWARD H.
Published in Genomics (San Diego, Calif.) (10.10.1995)
Published in Genomics (San Diego, Calif.) (10.10.1995)
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Insertional Mutagenesis of the Mouse Acid Ceramidase Gene Leads to Early Embryonic Lethality in Homozygotes and Progressive Lipid Storage Disease in Heterozygotes
Li, Chi-Ming, Park, Jae-Ho, Simonaro, Calogera M., He, Xingxuan, Gordon, Ronald E., Friedman, Adriana-Haimovitz, Ehleiter, Desiree, Paris, Francois, Manova, Katia, Hepbiloikler, Stefan, Fuks, Zvi, Sandhoff, Konrad, Kolesnick, Richard, Schuchman, Edward H.
Published in Genomics (San Diego, Calif.) (01.02.2002)
Published in Genomics (San Diego, Calif.) (01.02.2002)
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Journal Article
Mechanism of Glycosaminoglycan-Mediated Bone and Joint Disease: Implications for the Mucopolysaccharidoses and Other Connective Tissue Diseases
Simonaro, Calogera M, D'Angelo, Marina, He, Xingxuan, Eliyahu, Efrat, Shtraizent, Nataly, Haskins, Mark E, Schuchman, Edward H
Published in The American journal of pathology (01.01.2008)
Published in The American journal of pathology (01.01.2008)
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Journal Article
Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats
He, Xingxuan, Li, Chi-Ming, Simonaro, Calogera M., Wan, Qi, Haskins, Mark E., Desnick, Robert J., Schuchman, Edward H.
Published in Molecular genetics and metabolism (01.06.1999)
Published in Molecular genetics and metabolism (01.06.1999)
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Journal Article
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy
Fillat, C, Simonaro, C M, Yeyati, P L, Abkowitz, J L, Haskins, M E, Schuchman, E H
Published in The Journal of clinical investigation (15.07.1996)
Published in The Journal of clinical investigation (15.07.1996)
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Journal Article
Insertional Mutagenesis of the Mouse Acid Ceramidase Gene Leads to Early Embryonic Lethality in Homozygotes and Progressive Lipid Storage Disease in Heterozygotes
Li, Chi-Ming, Park, Jae-Ho, Simonaro, Calogera M., He, Xingxuan, Gordon, Ronald E., Friedman, Adriana-Haimovitz, Ehleiter, Desiree, Paris, Francois, Manova, Katia, Hepbildikler, Stefan, Fuks, Zvi, Sandhoff, Konrad, Kolesnick, Richard, Schuchman, Edward H.
Published in Genomics (San Diego, Calif.) (01.06.2002)
Published in Genomics (San Diego, Calif.) (01.06.2002)
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