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53 results

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Page 1
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: acquaviva bourdain c. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
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.
Plasma oxalate: comparison of methodologies.
Stokes F, Acquaviva-Bourdain C, Hoppe B, Lieske JC, Lindner E, Toulson G, Vaz FM, Rumsby G. Stokes F, et al. Urolithiasis. 2020 Dec;48(6):473-480. doi: 10.1007/s00240-020-01197-4. Epub 2020 May 29. Urolithiasis. 2020. PMID: 32472220 Free PMC article.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C. Laforêt P, et al. Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26. Neuromuscul Disord. 2009. PMID: 19327992
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.
53 results