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Results: 1-6 |
Results: 6

Authors: Voit, T Kutz, P Leube, B Neuen-Jacob, E Schroder, JM Cavallotti, D Vaccario, ML Schaper, J Broich, P Cohn, R Baethmann, M Gohlich-Ratmann, G Scoppetta, C Herrmann, R
Citation: T. Voit et al., Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus, NEUROMUSC D, 11(1), 2001, pp. 11-19

Authors: Moolenaar, SH Gohlich-Ratmann, G Engelke, UFH Spraul, M Humpfer, E Dvortsak, P Voit, T Hoffmann, GF Brautigam, C van Kuilenburg, AB van Gennip, A Vreken, P Wevers, RA
Citation: Sh. Moolenaar et al., beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine, MAGN RES M, 46(5), 2001, pp. 1014-1017

Authors: Van Kuilenburg, ABP Van Lenthe, H Assmann, B Gohlich-Ratmann, G Hoffmann, GF Brautigam, C Wevers, RA Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level, J INH MET D, 24(7), 2001, pp. 725-732

Authors: Baethmann, M Wendel, U Hoffmann, GF Gohlich-Ratmann, G Kleinlein, B Seiffert, P Blom, H Voit, T
Citation: M. Baethmann et al., Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolatereductase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 314-317

Authors: Gohlich-Ratmann, G Lackner, A Schaper, J Voit, T Gillessen-Kaesbach, G
Citation: G. Gohlich-ratmann et al., Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?, AM J MED G, 95(3), 2000, pp. 241-246

Authors: Vreken, P van Kuilenburg, ABP Hamajima, N Meinsma, R van Lenthe, H Gohlich-Ratmann, G Assmann, BE Wevers, RA van Gennip, AH
Citation: P. Vreken et al., cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase, BBA-GENE ST, 1447(2-3), 1999, pp. 251-257
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