转甲状腺素蛋白遗传性淀粉样多神经病患者的流行病学和临床特征：532例病例的全球综合分析 - Suppr

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

作者信息

Cruz Márcia Waddington, Schmidt Hartmut, Botteman Marc F, Carter John A, Chopra Avijeet S, Stewart Michelle, Hopps Markay, Fallet Shari, Amass Leslie

机构信息

a Federal University of Rio de Janeiro , Rio de Janeiro , Brazil.

b Universitätsklinikum Münster , Münster , Germany.

出版信息

Amyloid. 2017 Mar;24(sup1):109-110. doi: 10.1080/13506129.2017.1292902.

DOI:10.1080/13506129.2017.1292902

PMID:28434345

Abstract

摘要

相似文献

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

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A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser).

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Amyloid. 2017 Mar;24(sup1):105-106. doi: 10.1080/13506129.2017.1291424.

Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant.

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Ala97Ser mutation is common among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy.

Amyloid. 2019;26(sup1):7-8. doi: 10.1080/13506129.2019.1582479.

Amyloid polyneuropathy caused by wild-type transthyretin.

Muscle Nerve. 2015 Jul;52(1):146-9. doi: 10.1002/mus.24563. Epub 2015 Mar 14.

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Amyloid. 2016;23(1):64-5. doi: 10.3109/13506129.2015.1127223. Epub 2016 Jan 23.

The current status of the Transthyretin Amyloidosis Outcomes Survey (THAOS) in Japan.

Amyloid. 2019;26(sup1):61-62. doi: 10.1080/13506129.2019.1583182.

Common clinicopathological features in late-onset hereditary transthyretin amyloidosis (Ala97Gly, Val94Gly and Val30Met).

Amyloid. 2019;26(sup1):24-25. doi: 10.1080/13506129.2019.1582495.

引用本文的文献

Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.

Orphanet J Rare Dis. 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9.

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy.

Muscle Nerve. 2018 May;57(5):829-837. doi: 10.1002/mus.26034. Epub 2018 Feb 1.

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Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

作者信息

Cruz Márcia Waddington, Schmidt Hartmut, Botteman Marc F, Carter John A, Chopra Avijeet S, Stewart Michelle, Hopps Markay, Fallet Shari, Amass Leslie

机构信息

a Federal University of Rio de Janeiro , Rio de Janeiro , Brazil.

b Universitätsklinikum Münster , Münster , Germany.

出版信息

Amyloid. 2017 Mar;24(sup1):109-110. doi: 10.1080/13506129.2017.1292902.

DOI:10.1080/13506129.2017.1292902

PMID:28434345

Abstract

摘要

相似文献

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

Amyloid. 2017 Mar;24(sup1):109-110. doi: 10.1080/13506129.2017.1292902.

Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review.

Amyloid. 2017 Mar;24(sup1):111-112. doi: 10.1080/13506129.2017.1292903.

A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser).

Amyloid. 2018 Sep;25(3):211-212. doi: 10.1080/13506129.2018.1491398. Epub 2018 Jul 24.

Diflunisal compassive use in transthyretin hereditary amyloid polyneuropathy: report of a first Spanish experience.

Amyloid. 2017 Mar;24(sup1):105-106. doi: 10.1080/13506129.2017.1291424.

Two cases of late onset familial amyloid polyneuropathy with a Glu61Lys transthyretin variant.

J Neurol Sci. 2018 Jul 15;390:22-25. doi: 10.1016/j.jns.2018.04.003. Epub 2018 Apr 5.

Ala97Ser mutation is common among ethnic Chinese Malaysians with transthyretin familial amyloid polyneuropathy.

Amyloid. 2019;26(sup1):7-8. doi: 10.1080/13506129.2019.1582479.

Amyloid polyneuropathy caused by wild-type transthyretin.

Muscle Nerve. 2015 Jul;52(1):146-9. doi: 10.1002/mus.24563. Epub 2015 Mar 14.

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Amyloid. 2016;23(1):64-5. doi: 10.3109/13506129.2015.1127223. Epub 2016 Jan 23.

The current status of the Transthyretin Amyloidosis Outcomes Survey (THAOS) in Japan.

Amyloid. 2019;26(sup1):61-62. doi: 10.1080/13506129.2019.1583182.

Common clinicopathological features in late-onset hereditary transthyretin amyloidosis (Ala97Gly, Val94Gly and Val30Met).

Amyloid. 2019;26(sup1):24-25. doi: 10.1080/13506129.2019.1582495.

引用本文的文献

Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.

Orphanet J Rare Dis. 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9.

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy.

Muscle Nerve. 2018 May;57(5):829-837. doi: 10.1002/mus.26034. Epub 2018 Feb 1.

Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

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Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases.

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