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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P. Valayannopoulos V, et al. Among authors: philippe a. J Inherit Metab Dis. 2012 Jan;35(1):151-7. doi: 10.1007/s10545-011-9358-9. Epub 2011 Jun 10. J Inherit Metab Dis. 2012. PMID: 21660517
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, Philippe A. Jacquemont ML, et al. Among authors: philippe a. J Med Genet. 2006 Nov;43(11):843-9. doi: 10.1136/jmg.2006.043166. Epub 2006 Jul 13. J Med Genet. 2006. PMID: 16840569 Free PMC article.
Autism severity and temporal lobe functional abnormalities.
Gendry Meresse I, Zilbovicius M, Boddaert N, Robel L, Philippe A, Sfaello I, Laurier L, Brunelle F, Samson Y, Mouren MC, Chabane N. Gendry Meresse I, et al. Among authors: philippe a. Ann Neurol. 2005 Sep;58(3):466-9. doi: 10.1002/ana.20597. Ann Neurol. 2005. PMID: 16130096
[Left temporal arachnoid cyst and specific learning disorders associated with Pervasive Developmental Disorders - Not Otherwise Specified (PDD-NOS): contributions of an integrative neuropsychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François)].
Vaivre-Douret L, Boschi A, Cuny ML, Clouard C, Mosser A, Golse B, Philippe A, Bourgeois M, Boddaert N, Puget S. Vaivre-Douret L, et al. Among authors: philippe a. Encephale. 2016 Dec;42(6):582-588. doi: 10.1016/j.encep.2016.07.001. Epub 2016 Sep 16. Encephale. 2016. PMID: 27644917 French.
282 results