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Page 1
Primary hyperoxaluria.
Harambat J, Fargue S, Bacchetta J, Acquaviva C, Cochat P. Harambat J, et al. Among authors: acquaviva c. Int J Nephrol. 2011;2011:864580. doi: 10.4061/2011/864580. Epub 2011 Jun 16. Int J Nephrol. 2011. PMID: 21748001 Free PMC article.
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: acquaviva 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.
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.
Marelli C, Fouilhoux A, Benoist JF, De Lonlay P, Guffon-Fouilhoux N, Brassier A, Cano A, Chabrol B, Pennisi A, Schiff M, Acquaviva C, Murphy E, Servais A, Lachmann R. Marelli C, et al. Among authors: acquaviva c. J Inherit Metab Dis. 2022 Sep;45(5):937-951. doi: 10.1002/jimd.12525. Epub 2022 Jun 23. J Inherit Metab Dis. 2022. PMID: 35618652 Free PMC article.
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G, Beck B, Acquaviva C, Rumsby G, Deesker L, Garrelfs S, Gupta A, Bacchetta J, Groothoff J; OxalEurope Consortium/Erknet Guideline Workgroup On Hyperoxaluria. Mandrile G, et al. Among authors: acquaviva c. Pediatr Nephrol. 2023 Mar;38(3):625-634. doi: 10.1007/s00467-022-05613-2. Epub 2022 Jun 13. Pediatr Nephrol. 2023. PMID: 35695965 Free PMC article. Review.
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
Pszczolinski R, Acquaviva C, Berrahal I, Biebuyck N, Burtey S, Clabault K, Dossier C, Guillet M, Hemery F, Letavernier E, Rousset-Rouvière C, Bacchetta J, Moulin B. Pszczolinski R, et al. Among authors: acquaviva c. Clin Kidney J. 2024 Apr 3;17(5):sfae099. doi: 10.1093/ckj/sfae099. eCollection 2024 May. Clin Kidney J. 2024. PMID: 38737343 Free PMC article.
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Harambat J, Fargue S, Acquaviva C, Gagnadoux MF, Janssen F, Liutkus A, Mourani C, Macher MA, Abramowicz D, Legendre C, Durrbach A, Tsimaratos M, Nivet H, Girardin E, Schott AM, Rolland MO, Cochat P. Harambat J, et al. Among authors: acquaviva c. Kidney Int. 2010 Mar;77(5):443-9. doi: 10.1038/ki.2009.435. Epub 2009 Dec 16. Kidney Int. 2010. PMID: 20016466 Free article.
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry.
Metry EL, Garrelfs SF, Peters-Sengers H, Hulton SA, Acquaviva C, Bacchetta J, Beck BB, Collard L, Deschênes G, Franssen C, Kemper MJ, Lipkin GW, Mandrile G, Mohebbi N, Moochhala SH, Oosterveld MJS, Prikhodina L, Hoppe B, Cochat P, Groothoff JW; OxalEurope Consortium. Metry EL, et al. Among authors: acquaviva c. Kidney Int Rep. 2021 Nov 26;7(2):210-220. doi: 10.1016/j.ekir.2021.11.006. eCollection 2022 Feb. Kidney Int Rep. 2021. PMID: 35155860 Free PMC article.
102 results