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Improving diagnosis of mitochondrial fatty-acid oxidation disorders.
Vianey-Saban C, Fouilhoux A, Vockley J, Acquaviva-Bourdain C, Guffon N. Vianey-Saban C, et al. Eur J Hum Genet. 2023 Mar;31(3):265-272. doi: 10.1038/s41431-022-01260-1. Epub 2023 Jan 5. Eur J Hum Genet. 2023. PMID: 36599942 Free PMC article. No abstract available.
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
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.
Piraud M, Pettazzoni M, de Antonio M, Vianey-Saban C, Froissart R, Chabrol B, Young S, Laforêt P; French Pompe study group. Piraud M, et al. Among authors: vianey saban c. Mol Genet Metab Rep. 2020 May 1;23:100583. doi: 10.1016/j.ymgmr.2020.100583. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32382504 Free PMC article. No abstract available.
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.
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.
Curie A, Touil N, Gaillard S, Galanaud D, Leboucq N, Deschênes G, Morin D, Abad F, Luauté J, Bodenan E, Roche L, Acquaviva C, Vianey-Saban C, Cochat P, Cotton F, Bertholet-Thomas A. Curie A, et al. Among authors: vianey saban c. Orphanet J Rare Dis. 2020 Feb 26;15(1):59. doi: 10.1186/s13023-019-1271-6. Orphanet J Rare Dis. 2020. PMID: 32102670 Free PMC article.
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.
Faoucher M, Poulat AL, Chatron N, Labalme A, Schluth-Bolard C, Till M, Vianey-Saban C, Portes VD, Edery P, Sanlaville D, Lesca G, Acquaviva C. Faoucher M, et al. Among authors: vianey saban c. Mol Genet Metab Rep. 2019 Nov 1;21:100509. doi: 10.1016/j.ymgmr.2019.100509. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31720226 Free PMC article.
142 results