Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye201410.pdf
Reference34 articles.
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3. Sandgren O . Ocular amyloidosis, with special reference to the hereditary forms with vitreous involvement. Surv Ophthalmol 1995; 40 (3): 173–196.
4. Ikeda S, Nakazato M, Ando Y, Sobue G . Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 2002; 58 (7): 1001–1007.
5. Costa PP, Figueira AS, Bravo FR . Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci USA 1978; 75 (9): 4499–4503.
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1. Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China;Orphanet Journal of Rare Diseases;2022-09-02
2. Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives;Clinical Ophthalmology;2022-07
3. OCULAR MANIFESTATIONS OF ASP38ALA AND THR59LYS FAMILIAL TRANSTHYRETIN AMYLOIDOSIS;Retina;2022-02
4. Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant;Ophthalmic Genetics;2022-01-17
5. Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study;Annals of Clinical and Translational Neurology;2021-03-19
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