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Updated: Jul 11, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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遗传性转氨基粉症患者的职业实践,这是一项定性研究

Aina Gayà-Barroso1,2, Juan González-Moreno1,2, Adrián Rodríguez1,2

  • 1Internal Medicine Department, Son Llàtzer University Hospital, Palma, Spain.

Orphanet journal of rare diseases
|November 11, 2023
PubMed
概括

职业疗法 (OT) 可以改善遗传性转基因氨基粉症 (ATTRv) 患者的日常功能和心理健康. 这项研究表明,OT是ATTRv管理的有价值的补充治疗.

关键词:
日常生活活动 (ADL)遗传性转基因氨基粉症.职业治疗是一种职业疗法.生活质量生活的质量.罕见的遗传疾病是一种罕见的遗传疾病.

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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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