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