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Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.
Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A. Durel CA, et al. Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097/MD.0000000000003027. Medicine (Baltimore). 2016. PMID: 26986117 Free PMC article.
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. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 9. Pediatr Nephrol. 2021. PMID: 32901297
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P. Béhin A, et al. Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30. Rev Neurol (Paris). 2016. PMID: 27038534
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
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L, Cochat P, Leclerc AL, Cachat F, Fichtner C, De Souza VC, Garcia CD, Camoin-Schweitzer MC, Macher MA, Acquaviva-Bourdain C, Bacchetta J. Allard L, et al. Pediatr Nephrol. 2015 Oct;30(10):1807-13. doi: 10.1007/s00467-015-3090-x. Epub 2015 May 14. Pediatr Nephrol. 2015. PMID: 25972204 Free article.
53 results