Authors:
Shalata, A
Mandel, H
Dorche, C
Zabot, MT
Shalev, S
Hugeirat, Y
Arieh, D
Ronit, Z
Reiss, J
Anbinder, Y
Cohen, N
Citation: A. Shalata et al., Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers, PRENAT DIAG, 20(1), 2000, pp. 7-11
Authors:
Touati, G
Rusthoven, E
Depondt, E
Dorche, C
Duran, M
Heron, B
Rabier, D
Russo, M
Saudubray, JM
Citation: G. Touati et al., Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement, J INH MET D, 23(1), 2000, pp. 45-53
Authors:
Carragher, FM
Kirk, JM
Steer, C
Allen, J
Dorche, C
Citation: Fm. Carragher et al., False negative thiosulphate screening test in a case of molybdenum cofactor deficiency, J INH MET D, 22(7), 1999, pp. 842-843
Authors:
Reiss, J
Dorche, C
Stallmeyer, B
Mendel, RR
Cohen, N
Zabot, MT
Citation: J. Reiss et al., Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B, AM J HU GEN, 64(3), 1999, pp. 706-711
Authors:
Reiss, J
Christensen, E
Kurlemann, G
Zabot, MT
Dorche, C
Citation: J. Reiss et al., Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A, HUM GENET, 103(6), 1998, pp. 639-644