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Alport syndrome相关文献:
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE.
Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22.
PMID:32712016
Alport Syndrome.
Chavez E, Goncalves S, Rheault MN, Fornoni A.
Adv Kidney Dis Health. 2024 May;31(3):170-179. doi: 10.1053/j.akdh.2024.02.004.
PMID:39004457
Alport syndrome: an update.
Savige J.
Curr Opin Nephrol Hypertens. 2025 May 1;34(3):206-211. doi: 10.1097/MNH.0000000000001063. Epub 2025 Jan 22.
PMID:39840589
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.
Kashtan CE, Gross O.
Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: 10.1007/s00467-020-04819-6. Epub 2020 Nov 6.
PMID:33159213
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.
Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9.
PMID:29987460
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.
Puapatanakul P, Miner JH.
Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13.
PMID:38477333
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.
Zhou L, Xi B, Xu Y, Han Y, Yang Y, Yang J, Wang Y, Qiu L, Zhang Y, Zhou J.
J Nephrol. 2023 Jun;36(5):1415-1423. doi: 10.1007/s40620-023-01570-7. Epub 2023 Apr 25.
PMID:37097554
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium.
J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18.
PMID:34400539
Alport syndrome.
Kashtan CE, Michael AF.
Kidney Int. 1996 Nov;50(5):1445-63. doi: 10.1038/ki.1996.459.
PMID:8914010
Alport Syndrome Therapeutics: Ready for Prime-Time Players.
Omachi K, Miner JH.
Trends Pharmacol Sci. 2019 Nov;40(11):803-806. doi: 10.1016/j.tips.2019.07.012. Epub 2019 Aug 24.
PMID:31455555
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