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268 results

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Page 1
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.
Servais A, Zacchia M, Dehoux L, Shroff R, Brassier A, Taurisano R, Kölker S, Oh J, Ariceta G, Stojanovic J, Hörster F, Strologo D, Spada M, Schiff M, Dionisi-Vici C. Servais A, et al. Kidney Int Rep. 2024 Sep 6;9(12):3362-3374. doi: 10.1016/j.ekir.2024.09.002. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698355 Free PMC article.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: servais a. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P. Busiah K, et al. Among authors: servais a. Mol Genet Metab. 2024 Mar;141(3):108123. doi: 10.1016/j.ymgme.2023.108123. Epub 2024 Jan 1. Mol Genet Metab. 2024. PMID: 38219674
Cystinosis: a rare multisystem disease.
Servais A. Servais A. Pol Arch Intern Med. 2022 Nov 25;132(11):16363. doi: 10.20452/pamw.16363. Epub 2022 Nov 25. Pol Arch Intern Med. 2022. PMID: 36426771 Free article. No abstract available.
Emphysematous pyelonephritis in a diabetic patient.
Otiniano A, Tassin C, Serris A, Guennouni N, Lanternier F, Servais A, Parize P, Guinebert S, Van Huyen JPD, Bodard S, Boudhabhay I. Otiniano A, et al. Among authors: servais a. J Nephrol. 2023 Dec;36(9):2621-2624. doi: 10.1007/s40620-023-01639-3. Epub 2023 May 16. J Nephrol. 2023. PMID: 37193924 No abstract available.
Functional Characterization of Anti-C3bBb Autoantibodies and C3 Glomerulopathy Phenotype.
Roquigny J, Meuleman MS, El Sissy C, Cailliez M, Servais A, Roussey G, Baudouin V, Decramer S, Nobili F, Wynckel A, Sellier Leclerc AL, Lapeyraque AL, Martins PV, Meri S, Dragon-Durey MA, Chauvet S, Frémeaux-Bacchi V. Roquigny J, et al. Among authors: servais a. J Am Soc Nephrol. 2024 Sep 26. doi: 10.1681/ASN.0000000000000499. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39325562 No abstract available.
268 results