AAAAAA
Results:
1-10
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Results: 10
Authors:
REISS J
COHEN N
DORCHE C
MANDEL H
MENDEL RR
STALLMEYER B
ZABOT MT
DIERKS T
Citation: J. Reiss et al., MUTATIONS IN A POLYCISTRONIC NUCLEAR GENE ASSOCIATED WITH MOLYBDENUM COFACTOR DEFICIENCY, Nature genetics, 20(1), 1998, pp. 51-53
Authors:
SHALATA A
MANDEL H
REISS J
SZARGEL R
COHENAKENINE A
DORCHE C
ZABOT MT
VANGENNIP A
ABELING N
BERANT M
COHEN N
Citation: A. Shalata et al., LOCALIZATION OF A GENE FOR MOLYBDENUM COFACTOR DEFICIENCY, ON THE SHORT ARM OF CHROMOSOME-6, BY HOMOZYGOSITY MAPPING, American journal of human genetics, 63(1), 1998, pp. 148-154
Authors:
PARINI O
BRISCIOLI V
CARUSO U
DORCHE C
FORTUNA R
MINNITI G
SELICORNI A
VISMARA E
MANCINI G
Citation: O. Parini et al., SPHEROPHAKIA ASSOCIATED WITH MOLYBDENUM COFACTOR DEFICIENCY, American journal of medical genetics, 73(3), 1997, pp. 272-275
Authors:
BONIOLI E
DISTEFANO A
PALMIERI A
BERTOLA A
BELLINI C
CARUSO U
FANTASIA AR
MINNITI G
DORCHE C
Citation: E. Bonioli et al., COMBINED DEFICIENCY OF XANTHINE-OXIDASE AND SULFITE OXIDASE DUE TO A DEFICIENCY OF MOLYBDENUM COFACTOR, Journal of inherited metabolic disease, 19(5), 1996, pp. 700-701
Authors:
BARBOT C
MARTINS E
VILARINHO L
DORCHE C
CARDOSO ML
Citation: C. Barbot et al., A MILD FORM OF INFANTILE ISOLATED SULFITE OXIDASE DEFICIENCY, Neuropediatrics, 26(6), 1995, pp. 322-324
Authors:
GUFFON N
SOUILLET G
MAIRE I
DORCHE C
MATHIEU M
GUIBAUD P
Citation: N. Guffon et al., JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 159-161
Authors:
AMIEL J
GAGEY V
RABIER D
DORCHE C
BONNEFONT JP
DUFIER JL
SAUDUBRAY JM
REY J
MUNNICH A
Citation: J. Amiel et al., ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME, Archives de pediatrie, 1(11), 1994, pp. 1023-1027
Authors:
VILARINHO L
ALVES JR
DORCHE C
CHADEFAUX B
PARVY P
Citation: L. Vilarinho et al., CITRULLINEMIA AND ISOLATED SULFITE OXIDASE DEFICIENCY IN 2 SIBLINGS, Journal of inherited metabolic disease, 17(5), 1994, pp. 638-639
Authors:
HANSEN LK
WULFF K
DORCHE C
CHRISTENSEN E
Citation: Lk. Hansen et al., MOLYBDENUM COFACTOR DEFICIENCY IN 2 SIBLINGS - DIAGNOSTIC DIFFICULTIES, European journal of pediatrics, 152(8), 1993, pp. 662-664
Authors:
FARRIAUX JP
DORCHE C
TRAVERT G
Citation: Jp. Farriaux et al., INCIDENCE OF CYSTIC-FIBROSIS, Archives francaises de pediatrie, 50(6), 1993, pp. 540-541
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