The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
https://link.springer.com/content/pdf/10.1007/s40620-020-00873-3.pdf
Reference8 articles.
1. Pihlamaa T, Sinikka S (2016) Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis. Amyloid 23(4):225–233. https://doi.org/10.1080/13506129.2016.1238355
2. Kiuru S (1998) Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. Amyloid 5(1):55–66. doi:https://doi.org/10.3109/13506129809007291
3. Schmidt EK, Mustonen T, Kiuru-Enari S, Kivelä TT, Atula S (2020) Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study. Orphanet J Rare Dis 15(1):19. https://doi.org/10.1186/s13023-020-1300-5
4. Yamanaka S, Yoichi M, Kasai K, Ikeda S-I, Kiuru-Enari S, Hosoya T (2013) Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases. Clin Kidney J 6(2):189–93. https://doi.org/10.1093/ckj/sft007
5. Sethi S, Jason DT, Patrick Q, William M, Kurtin Paul J, Ahmet D, Edward WH (2013) Renal amyloidosis associated with a novel sequence variant of gelsolin. Am J Kidney Dis 61(1):161–166. https://doi.org/10.1053/j.ajkd.2012.07.016
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1. Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions;Amyloid;2023-05-04
2. Gelsolin Can Be a Prognostic Biomarker and Correlated with Immune Infiltrates in Gastric Cancer;International Journal of General Medicine;2022-01
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