Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
SOUILLET, G, GUFFON, N, GALAMBRUN, C, BERTRAND, Y, FROISSART, R, DORCHE, C, GEBUHRER, L, GARIN, C, BERARD, J, GUIBAUD, P, MAIRE, I, PUJOL, M, TAYLOR, P, SEVIN, F, BLEYZAC, N, MULIER, C, DURIN, A, KEBAILI, K
Published in Bone marrow transplantation (Basingstoke) (01.06.2003)
Published in Bone marrow transplantation (Basingstoke) (01.06.2003)
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False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?
Cheillan, D., Vercherat, M., Chevalier‐Porst, F., Charcosset, M., Rolland, M. O., Dorche, C.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
Touati, G., Rusthoven, E., Depondt, E., Dorche, C., Duran, M., Heron, B., Rabier, D., Russo, M., Saudubray, J. M.
Published in Journal of inherited metabolic disease (01.02.2000)
Published in Journal of inherited metabolic disease (01.02.2000)
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Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Pang, S Y, Wallace, M A, Hofman, L, Thuline, H C, Dorche, C, Lyon, I C, Dobbins, R H, Kling, S, Fujieda, K, Suwa, S
Published in Pediatrics (Evanston) (01.06.1988)
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Published in Pediatrics (Evanston) (01.06.1988)
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CDG IIx with unusual phenotype
Cheillan, D., Cognat, S., Dorche, C., Jaeken, J., Vianey‐Saban, C., Guffon, N.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
Carragher, F. M., Kirk, J. M., Steer, C., Allen, J., Dorche, C.
Published in Journal of inherited metabolic disease (01.10.1999)
Published in Journal of inherited metabolic disease (01.10.1999)
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A mild form of infantile isolated sulphite oxidase deficiency
Barbot, C, Martins, E, Vilarinho, L, Dorche, C, Cardoso, M L
Published in Neuropediatrics (01.12.1995)
Published in Neuropediatrics (01.12.1995)
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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia
Minutti, Carla Z, Lacey, Jean M, Magera, Mark J, Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H, Lymp, James F, Zimmerman, Donald, Rinaldo, Piero, Matern, Dietrich
Published in The journal of clinical endocrinology and metabolism (01.08.2004)
Published in The journal of clinical endocrinology and metabolism (01.08.2004)
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Citrullinaemia and isolated sulphite oxidase deficiency in two siblings
Vilarinho, L, Alves, J R, Dorche, C, Chadefaux, B, Parvy, P
Published in Journal of inherited metabolic disease (1994)
Published in Journal of inherited metabolic disease (1994)
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Molybdenum cofactor deficiency in two siblings: diagnostic difficulties
Hansen, L K, Wulff, K, Dorche, C, Christensen, E
Published in European journal of pediatrics (01.08.1993)
Published in European journal of pediatrics (01.08.1993)
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Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor
Bonioli, E, DiStefano, A, Palmieri, A, Bertola, A, Bellini, C, Caruso, U, Fantasia, A R, Minniti, G, Dorche, C
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretion
van der Klei-van Moorsel, J M, Smit, L M, Brockstedt, M, Jakobs, C, Dorche, C, Duran, M
Published in European journal of pediatrics (01.01.1991)
Published in European journal of pediatrics (01.01.1991)
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5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome
Divry, P, Roulaud-Parrot, F, Dorche, C, Zabot, M T, Contraire, B, Hagenfeldt, L, Larsson, A
Published in Journal of inherited metabolic disease (01.01.1991)
Published in Journal of inherited metabolic disease (01.01.1991)
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A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
Vianey-Liaud, C, Desjacques, P, Gaulme, J, Dorche, C, Vanlieferinghen, P, Dechelotte, P, Divry, P
Published in Journal of inherited metabolic disease (01.12.1988)
Published in Journal of inherited metabolic disease (01.12.1988)
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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
Reiss, Jochen, Cohen, Nadine, Dorche, Claude, Mandel, Hanna, Mendel, Ralf R, Stallmeyer, Birgit, Zabot, Marie-Therese, Dierks, Thomas
Published in Nature genetics (01.09.1998)
Published in Nature genetics (01.09.1998)
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Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
Leimkühler, Silke, Charcosset, Mathilde, Latour, Philippe, Dorche, Claude, Kleppe, Soledad, Scaglia, Fernando, Szymczak, Irmina, Schupp, Petra, Hahnewald, Rita, Reiss, Jochen
Published in Human genetics (01.10.2005)
Published in Human genetics (01.10.2005)
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