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Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.

Diane Beauvais,Céline Labeyrie,Cécile Cauquil,Bruno Francou,Ludivine Eliahou,Adeline Not,Andoni Echaniz-Laguna,Clovis Adam,Michel S Slama,Anouar Benmalek,Luca Leonardi,François Rouzet,David Adams,Vincent Algalarrondo,Guillemette Beaudonnet

Journal of neurology, neurosurgery, and psychiatry（2023）

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摘要
Multimodal neurological and cardiac investigation of TTRv carriers is crucial for the early detection of ATTRv amyloidosis and initiation of DMT.
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