Touati G - Search Results

1

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.

Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A. Haut S, et al. Among authors: touati g. Hum Genet. 2003 Jul;113(2):118-22. doi: 10.1007/s00439-003-0946-0. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709789

2

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Brivet M, et al. Among authors: touati g. Mol Genet Metab. 2003 Mar;78(3):186-92. doi: 10.1016/s1096-7192(03)00016-7. Mol Genet Metab. 2003. PMID: 12649063

3

Respiratory chain defects may present only with hypoglycemia.

Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: touati g. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700

4

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

Miné M, Brivet M, Touati G, Grabowski P, Abitbol M, Marsac C. Miné M, et al. Among authors: touati g. J Biol Chem. 2003 Apr 4;278(14):11768-72. doi: 10.1074/jbc.M211106200. Epub 2003 Jan 27. J Biol Chem. 2003. PMID: 12551913 Free article.

5

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

Garcia-Cazorla A, De Lonlay P, Rustin P, Chretien D, Touati G, Rabier D, Slama A, Saudubray JM. Garcia-Cazorla A, et al. Among authors: touati g. J Pediatr. 2006 Sep;149(3):401-405. doi: 10.1016/j.jpeds.2006.05.036. J Pediatr. 2006. PMID: 16939756

6

Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: touati g. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.

7

[Hereditary metabolic causes of stroke and pseudo-stroke in adulthood].

Nassogne MC, Touati G, Beyler C, Saudubray JM. Nassogne MC, et al. Among authors: touati g. Rev Med Interne. 2001 Dec;22 Suppl 3:338s-346s. Rev Med Interne. 2001. PMID: 11794878 Review. French.

8

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, Brivet M. Ogier de Baulny H, et al. Among authors: touati g. J Pediatr. 1995 Nov;127(5):723-8. doi: 10.1016/s0022-3476(95)70160-5. J Pediatr. 1995. PMID: 7472823

9

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I. Barnerias C, et al. Among authors: touati g. Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1. Dev Med Child Neurol. 2010. PMID: 20002125 Free article.

10

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.

García-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G, Saudubray JM. García-Cazorla A, et al. Among authors: touati g. Pediatrics. 2005 Nov;116(5):1170-7. doi: 10.1542/peds.2004-2407. Pediatrics. 2005. PMID: 16264005

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