Debray FG - Search Results

1

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.

Debray FG, Lambert M, Lortie A, Vanasse M, Mitchell GA. Debray FG, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2046-51. doi: 10.1002/ajmg.a.31880. Am J Med Genet A. 2007. PMID: 17663470 Review.

2

Recurrent pancreatitis in mitochondrial cytopathy.

Debray FG, Drouin E, Herzog D, Lortie A, Lambert M, Garel L, Mitchell GA, Michaud JL. Debray FG, et al. Am J Med Genet A. 2006 Nov 1;140(21):2330-5. doi: 10.1002/ajmg.a.31457. Am J Med Genet A. 2006. PMID: 17022070 Review.

3

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.

Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, Shoubridge EA, Robinson BH, Mitchell GA. Debray FG, et al. Pediatrics. 2007 Apr;119(4):722-33. doi: 10.1542/peds.2006-1866. Pediatrics. 2007. PMID: 17403843

4

Disorders of mitochondrial function.

Debray FG, Lambert M, Mitchell GA. Debray FG, et al. Curr Opin Pediatr. 2008 Aug;20(4):471-82. doi: 10.1097/MOP.0b013e328306ebb6. Curr Opin Pediatr. 2008. PMID: 18622207 Free article. Review.

5

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.

Debray FG, Lambert M, Allard P, Mitchell GA. Debray FG, et al. J Child Neurol. 2010 Aug;25(8):1000-2. doi: 10.1177/0883073809351983. Epub 2010 May 14. J Child Neurol. 2010. PMID: 20472868

6

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA. Debray FG, et al. J Med Genet. 2011 Mar;48(3):183-9. doi: 10.1136/jmg.2010.081976. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266382

7

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.

Debray FG, Mitchell GA, Allard P, Robinson BH, Hanley JA, Lambert M. Debray FG, et al. Clin Chem. 2007 May;53(5):916-21. doi: 10.1373/clinchem.2006.081166. Epub 2007 Mar 23. Clin Chem. 2007. PMID: 17384007

8

Acute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.

Debray FG, Merouani A, Lambert M, Brochu P, Bernard C, Robinson BH, Mitchell GA. Debray FG, et al. Am J Kidney Dis. 2008 Apr;51(4):691-6. doi: 10.1053/j.ajkd.2007.11.024. Am J Kidney Dis. 2008. PMID: 18371545 Free article. No abstract available.

9

Temple-Baraitser syndrome: a rare and possibly unrecognized condition.

Jacquinet A, Gérard M, Gabbett MT, Rausin L, Misson JP, Menten B, Mortier G, Van Maldergem L, Verloes A, Debray FG. Jacquinet A, et al. Among authors: debray fg. Am J Med Genet A. 2010 Sep;152A(9):2322-6. doi: 10.1002/ajmg.a.33574. Am J Med Genet A. 2010. PMID: 20683999

10

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R. Debray FG, et al. Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20. Mitochondrion. 2014. PMID: 24956508

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