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Page 1
Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis.
Bertholet-Thomas A, Guittet C, Manso-Silván MA, Joukoff S, Navas-Serrano V, Baudouin V, Cailliez M, Di Maio M, Gillion-Boyer O, Golubovic E, Harambat J, Knebelmann B, Nobili F, Novo R, Podracka L, Roussey-Kesler G, Granier LA. Bertholet-Thomas A, et al. Among authors: knebelmann b. Pediatr Nephrol. 2021 Jul;36(7):1765-1774. doi: 10.1007/s00467-020-04873-0. Epub 2021 Feb 26. Pediatr Nephrol. 2021. PMID: 33635379 Free PMC article. Clinical Trial.
Adenine phosphoribosyltransferase deficiency in children.
Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A; APRT Study Group. Harambat J, et al. Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3. Pediatr Nephrol. 2012. PMID: 22212387
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Among authors: knebelmann b. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Observations of a large Dent disease cohort.
Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R. Blanchard A, et al. Among authors: knebelmann b. Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22. Kidney Int. 2016. PMID: 27342959 Free article.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Seys E, et al. Among authors: knebelmann b. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381550 Free PMC article.
Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.
Bertholet-Thomas A, Guittet C, Manso-Silván MA, Castang A, Baudouin V, Cailliez M, Di Maio M, Gillion-Boyer O, Golubovic E, Harambat J, Klein A, Knebelmann B, Nobili F, Novo R, Podracka L, Roussey-Kesler G, Stylianou C, Granier LA. Bertholet-Thomas A, et al. Among authors: knebelmann b. Pediatr Nephrol. 2021 Jan;36(1):83-91. doi: 10.1007/s00467-020-04693-2. Epub 2020 Jul 26. Pediatr Nephrol. 2021. PMID: 32712761 Free PMC article. Clinical Trial.
Cystinuria: clinical practice recommendation.
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN. Servais A, et al. Among authors: knebelmann b. Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9. Kidney Int. 2021. PMID: 32918941 Free article.
Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments.
Bertholet-Thomas A, Guittet C, Manso-Silván MA, Castang A, Baudouin V, Cailliez M, Di Maio M, Gillion-Boyer O, Golubovic E, Harambat J, Klein A, Knebelmann B, Nobili F, Novo R, Podracka L, Roussey-Kesler G, Stylianou C, Granier LA. Bertholet-Thomas A, et al. Among authors: knebelmann b. Pediatr Nephrol. 2021 Jan;36(1):215. doi: 10.1007/s00467-020-04776-0. Pediatr Nephrol. 2021. PMID: 32989611 Free PMC article.
169 results