Touati G - Search Results

1

Astudillo L, Sabourdy F, Touati G, Levade T. Astudillo L, et al. Among authors: touati g. Presse Med. 2016 Mar;45(3):302-12. doi: 10.1016/j.lpm.2015.05.009. Epub 2016 Feb 18. Presse Med. 2016. PMID: 26899150 Review. French.

2

Neurocognitive profiles in MSUD school-age patients.

Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: touati g. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240

3

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

Dubot P, Astudillo L, Touati G, Baruteau J, Broué P, Roche S, Sabourdy F, Levade T. Dubot P, et al. Among authors: touati g. JIMD Rep. 2019 Mar 14;46(1):11-15. doi: 10.1002/jmd2.12020. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240149 Free PMC article.

4

First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation.

Dubot P, Sabourdy F, Plat G, Jubert C, Cancès C, Broué P, Touati G, Levade T. Dubot P, et al. Among authors: touati g. Int J Mol Sci. 2019 Oct 28;20(21):5345. doi: 10.3390/ijms20215345. Int J Mol Sci. 2019. PMID: 31661765 Free PMC article.

5

[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.

6

[New Inborn Errors of Metabolism added in the French program of neonatal screening].

Touati G, Gorce M, Oliver-Petit I, Broué P, Ausseil J. Touati G, et al. Med Sci (Paris). 2021 May;37(5):507-518. doi: 10.1051/medsci/2021057. Epub 2021 May 18. Med Sci (Paris). 2021. PMID: 34003097 Free article. French.

7

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

8

Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Lombes A, Romero NB, Touati G, Frachon P, Cheval MA, Giraud M, Simon D, Ogier de Baulny H. Lombes A, et al. Among authors: touati g. J Inherit Metab Dis. 1996;19(3):286-95. doi: 10.1007/BF01799256. J Inherit Metab Dis. 1996. PMID: 8803770

9

Morphological studies of skeletal muscle in lactic acidosis.

Romero NB, Lombès A, Touati G, Rigal O, Frachon P, Cheval MA, Giraud M, Possekel S, Fardeau M, Ogier de Baulny H. Romero NB, et al. Among authors: touati g. J Inherit Metab Dis. 1996;19(4):528-34. doi: 10.1007/BF01799113. J Inherit Metab Dis. 1996. PMID: 8884576 Review.

10

[Lysinuric dibasic protein intolerance: characteristic aspects of bone marrow involvement].

Doireau V, Fenneteau O, Duval M, Perelman S, Vilmer E, Touati G, Schlegel N, Ogier de Baulny H. Doireau V, et al. Among authors: touati g. Arch Pediatr. 1996 Sep;3(9):877-80. doi: 10.1016/0929-693x(96)87577-4. Arch Pediatr. 1996. PMID: 8949349 French.

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