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Results: 3

Authors: Kakkis, ED Muenzer, J Tiller, GE Waber, L Belmont, J Passage, M Izykowski, B Phillips, J Doroshow, R Walot, I Hoft, R Yu, KT Okazaki, S Lewis, D Lachman, R Thompson, JN
Citation: Ed. Kakkis et al., Enzyme-replacement therapy in mucopolysaccharidosis I., N ENG J MED, 344(3), 2001, pp. 182-188

Authors: Andresen, BS Dobrowolski, SF O'Reilly, L Muenzer, J McCandless, SE Frazier, DM Udvari, S Bross, P Knudsen, I Banas, R Chace, DH Engel, P Naylor, EW Gregersen, N
Citation: Bs. Andresen et al., Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency, AM J HU GEN, 68(6), 2001, pp. 1408-1418

Authors: Weston, BW Lin, JL Muenzer, J Cameron, HS Arnold, RR Seydewitz, HH Mayatepek, E Van Schaftingen, E Veiga-Da-Cunha, M Matern, D Chen, YT
Citation: Bw. Weston et al., Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype, PEDIAT RES, 48(3), 2000, pp. 329-334
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