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Monitoring of asparagine depletion and anti-L-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial.
Paillassa J, Leguay T, Thomas X, Huguet F, Audrain M, Lheritier V, Vianey-Saban C, Acquaviva-Bourdain C, Pagan C, Dombret H, Ifrah N, Boissel N, Hunault-Berger M. Paillassa J, et al. Blood Cancer J. 2018 May 22;8(5):45. doi: 10.1038/s41408-018-0084-5. Blood Cancer J. 2018. PMID: 29795175 Free PMC article. No abstract available.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. Pettazzoni M, et al. PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017. PLoS One. 2017. PMID: 28749998 Free PMC article.
Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story.
Gaillard S, Roche L, Deschênes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Nony P, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A, Cornu C, Kassai B. Gaillard S, et al. Among authors: vianey saban c. Therapie. 2020 Apr;75(2):169-173. doi: 10.1016/j.therap.2020.02.008. Epub 2020 Feb 13. Therapie. 2020. PMID: 32248985 Review. French.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.
Gaillard S, Roche L, Lemoine S, Deschênes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodénan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A. Gaillard S, et al. Among authors: vianey saban c. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 9. Pediatr Nephrol. 2021. PMID: 32901297
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M, Veauville-Merllié A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C. Schiff M, et al. N Engl J Med. 2016 Feb 25;374(8):795-7. doi: 10.1056/NEJMc1513610. N Engl J Med. 2016. PMID: 26933868 Free PMC article. No abstract available.
142 results