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Page 1
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Mills PB, et al. Among authors: de lonlay p. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.
Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, Heinrichs C, Chadefaux-Vekemans B, Dan B, de Lonlay P. Bahi-Buisson N, et al. Among authors: de lonlay p. Dev Med Child Neurol. 2008 Dec;50(12):945-9. doi: 10.1111/j.1469-8749.2008.03114.x. Dev Med Child Neurol. 2008. PMID: 19046187 Free article.
Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism.
Gataullina S, Delonlay P, Lemaire E, Boddaert N, Bulteau C, Soufflet C, Laín GA, Nabbout R, Chiron C, Dulac O. Gataullina S, et al. Dev Med Child Neurol. 2015 Feb;57(2):194-9. doi: 10.1111/dmcn.12574. Epub 2014 Aug 22. Dev Med Child Neurol. 2015. PMID: 25145506 Free article.
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Among authors: de lonlay p. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: de klerk jb, de rijk van andel jf, de lonlay p. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
Unusual magnetic resonance imaging features in Menkes disease.
Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Among authors: de lonlay p. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619
357 results