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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM, Montealegre S, Wiedemann A, Nuzum MLC, Blondel A, Debruge H, Cano A, Chabrol B, Hoebeke C, Polak M, Stoupa A, Feillet F, Torre S, Boddaert N, Bruel H, Barth M, Damaj L, Abi-Wardé MT, Afenjar A, Benoist JF, Madrange M, Caccavelli L, Renard P, Hubas A, Nusbaum P, Pontoizeau C, Gobin S, van Endert P, Ottolenghi C, Maltret A, de Lonlay P. Bérat CM, et al. Among authors: cano a. J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32929747
[Fabry disease in childhood].
Chabrol B, Mansour H, Cano A. Chabrol B, et al. Among authors: cano a. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.
Aortic dilatation in Cockayne syndrome.
Ovaert C, Cano A, Chabrol B. Ovaert C, et al. Among authors: cano a. Am J Med Genet A. 2007 Nov 1;143A(21):2604-6. doi: 10.1002/ajmg.a.31986. Am J Med Genet A. 2007. PMID: 17935247
[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B. Ticus I, et al. Among authors: cano a. Arch Pediatr. 2008 Aug;15(8):1296-9. doi: 10.1016/j.arcped.2008.04.024. Epub 2008 Jun 16. Arch Pediatr. 2008. PMID: 18556184 French.
[Glucose transporter type 1 (GLUT-1) deficiency].
Cano A, Ticus I, Chabrol B. Cano A, et al. Rev Neurol (Paris). 2008 Nov;164(11):896-901. doi: 10.1016/j.neurol.2008.02.033. Epub 2008 Apr 3. Rev Neurol (Paris). 2008. PMID: 18808765 Review. French.
1,198 results