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Results: 4

Authors: Janecke, AR Lindner, M Erdel, M Mayatepek, E Moslinger, D Podskarbi, T Fresser, F Stockler-Ipsiroglu, S Hoffmann, GF Utermann, G
Citation: Ar. Janecke et al., Mutation analysis in glycogen storage disease type 1 non-a, HUM GENET, 107(3), 2000, pp. 285-289

Authors: Shin, YS Korenke, GC Huppke, P Knerr, I Podskarbi, T
Citation: Ys. Shin et al., UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation, J INH MET D, 23(4), 2000, pp. 383-386

Authors: Shin, YS Zschocke, J Das, AM Podskarbi, T
Citation: Ys. Shin et al., Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase, J INH MET D, 22(3), 1999, pp. 327-329

Authors: Sindern, E Patzold, T Vorgerd, M Shin, YS Podskarbi, T Schroder, JM Malin, JP
Citation: E. Sindern et al., Adult polyglucosan body disease. Report of a case with predominant involvement of the central and peripheral nervous system and branching enzyme deficiency in leukocytes, NERVENARZT, 70(8), 1999, pp. 745-749
Risultati: 1-4 |