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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: cano a. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
[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.
1,157 results