Touati G - Search Results

1

Long-term liver disease in methylmalonic and propionic acidemias.

Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: touati g. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791

2

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

3

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

Acquaviva C, Benoist JF, Callebaut I, Guffon N, Ogier de Baulny H, Touati G, Aydin A, Porquet D, Elion J. Acquaviva C, et al. Among authors: touati g. Eur J Hum Genet. 2001 Aug;9(8):577-82. doi: 10.1038/sj.ejhg.5200675. Eur J Hum Genet. 2001. PMID: 11528502

4

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

5

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

6

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

7

Methylmalonic and propionic acidaemias: management and outcome.

de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. de Baulny HO, et al. Among authors: touati g. J Inherit Metab Dis. 2005;28(3):415-23. doi: 10.1007/s10545-005-7056-1. J Inherit Metab Dis. 2005. PMID: 15868474 Review.

8

NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.

Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G. Masurel-Paulet A, et al. Among authors: touati g. J Inherit Metab Dis. 2008 Feb;31(1):81-7. doi: 10.1007/s10545-008-0793-1. Epub 2008 Jan 25. J Inherit Metab Dis. 2008. PMID: 18214711

9

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: touati g. 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

10

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.

de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P. de Keyzer Y, et al. Among authors: touati g. Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270. Pediatr Res. 2009. PMID: 19342984

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