Publications by authors named "Claude Dorche"

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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.
Silke Leimkühler, Mathilde Charcosset, Philippe Latour, Claude Dorche, Soledad Kleppe

Hum Genet· October 2005

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Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
Carla Z Minutti, Jean M Lacey, Mark J Magera, Si Houn Hahn, Mark McCann, Claude Dorche

J Clin Endocrinol Metab· August 2004

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Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Jean L Johnson, Katharine E Coyne, Robert M Garrett, Marie-Therese Zabot, Claude Dorche

Hum Mutat· July 2002

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