Chrétien D - Search Results

1

Variable outcome of growth hormone administration in respiratory chain deficiency.

Romano S, Samara D, Crosnier H, Valayannopoulos V, Polak M, Chrétien D, Rötig A, Munnich A, Brauner R, de Lonlay P. Romano S, et al. Among authors: chretien d. Mol Genet Metab. 2008 Feb;93(2):195-9. doi: 10.1016/j.ymgme.2007.09.007. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17951089

2

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P. Munnich A, et al. Among authors: chretien d. Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711. Eur J Pediatr. 1996. PMID: 8777918 Review.

3

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A. Parfait B, et al. Among authors: chretien d. Hum Genet. 1997 Dec;101(2):247-50. doi: 10.1007/s004390050625. Hum Genet. 1997. PMID: 9402980

4

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, Munnich A. Lebon S, et al. Among authors: chretien d. J Med Genet. 2003 Dec;40(12):896-9. doi: 10.1136/jmg.40.12.896. J Med Genet. 2003. PMID: 14684687 Free PMC article.

5

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A. Slama A, et al. Among authors: chretien d. Mol Genet Metab. 2005 Dec;86(4):462-5. doi: 10.1016/j.ymgme.2005.09.006. Epub 2005 Nov 2. Mol Genet Metab. 2005. PMID: 16263314

6

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

Cosson MA, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, Verkarre V, Chrétien D, Rabier D, Munnich A, Benoist JF, de Keyzer Y, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: chretien d. Mol Genet Metab. 2008 Sep-Oct;95(1-2):107-9. doi: 10.1016/j.ymgme.2008.06.007. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676166

7

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Bourgeron T, et al. Among authors: chretien d. Nat Genet. 1995 Oct;11(2):144-9. doi: 10.1038/ng1095-144. Nat Genet. 1995. PMID: 7550341

8

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.

Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Rötig A, et al. Among authors: chretien d. Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4.8.1327. Hum Mol Genet. 1995. PMID: 7581370

9

Biochemical and molecular investigations in respiratory chain deficiencies.

Rustin P, Chretien D, Bourgeron T, Gérard B, Rötig A, Saudubray JM, Munnich A. Rustin P, et al. Among authors: chretien d. Clin Chim Acta. 1994 Jul;228(1):35-51. doi: 10.1016/0009-8981(94)90055-8. Clin Chim Acta. 1994. PMID: 7955428 Review.

10

Reference charts for respiratory chain activities in human tissues.

Chretien D, Rustin P, Bourgeron T, Rötig A, Saudubray JM, Munnich A. Chretien D, et al. Clin Chim Acta. 1994 Jul;228(1):53-70. doi: 10.1016/0009-8981(94)90056-6. Clin Chim Acta. 1994. PMID: 7955429

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