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Page 1
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P. Valayannopoulos V, et al. Among authors: chabli a. Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31. Mol Genet Metab. 2009. PMID: 19345633
[Enzyme replacement therapy for lysosomal storage disorders].
Valayannopoulos V, Brassier A, Chabli A, Caillaud C, Lemoine M, Odent T, Arnoux JB, de Lonlay P. Valayannopoulos V, et al. Among authors: chabli a. Arch Pediatr. 2011 Oct;18(10):1119-23. doi: 10.1016/j.arcped.2011.07.002. Epub 2011 Aug 27. Arch Pediatr. 2011. PMID: 21873040 Review. French.
Creatine and guanidinoacetate reference values in a French population.
Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: chabli a. Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16. Mol Genet Metab. 2013. PMID: 24090707
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: chabli 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
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brulé E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y. Valayannopoulos V, et al. Among authors: chabli a. J Inherit Metab Dis. 2013 Jan;36(1):103-12. doi: 10.1007/s10545-012-9495-9. Epub 2012 May 30. J Inherit Metab Dis. 2013. PMID: 22644605
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J. Cheillan D, et al. Among authors: chabli a. Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96. Orphanet J Rare Dis. 2012. PMID: 23234264 Free PMC article.
43 results