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The EMBO Journal|September 1, 1989
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcriptsL E Quintern, E H Schuchman, O Levran, et al.The Biochemical Journal|April 1, 1990
A fluorescent residualizing label for studies on protein uptake and catabolism in vivo and in vitroJ L Maxwell, L Terracio, T K Borg, et al.American Journal of Human Genetics|June 13, 1998
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisB D Gelb, J P Willner, T M Dunn, et al.The Journal of Clinical Investigation|April 1, 1989
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneH S Bernstein, D F Bishop, K H Astrin, et al.Journal of Forensic Sciences|September 26, 1997
HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populationsI Medintz, L Levine, L McCurdy, et al.Enzyme|January 1, 1986
Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharoseK M Osiecki-Newman, D Fabbro, T Dinur, et al.Journal of Inherited Metabolic Disease|January 24, 2004
Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variantS Victor, J B S Coulter, G T N Besley, et al.Metabolism: Clinical and Experimental|April 1, 1997
Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitusM M Abad, P D Cotter, F H Fodor, et al.The Journal of Biological Chemistry|May 10, 1985
Characterization of glycated proteins by 13C NMR spectroscopy. Identification of specific sites of protein modification by glucoseC I Neglia, H J Cohen, A R Garber, et al.The Journal of Clinical Investigation|July 7, 1999
The myeloperoxidase system of human phagocytes generates Nepsilon-(carboxymethyl)lysine on proteins: a mechanism for producing advanced glycation end products at sites of inflammationM M Anderson, J R Requena, J R Crowley, et al.Pageof 40