Auflistung Enfermedades Neuromusculares.artículos Nach Schlagwort "Amyloidosis, Hereditary, Transthyretin-Related"

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Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Waddington Cruz, Marcia; Wixner, Jonas; Amass, Leslie; Kiszko, Jan; Chapman, Doug; Ando, Yukio; THAOS investigators (Springer, 2021-05-22)

Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene. The most common mutation, Val30Met, can manifest as an early- ...
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

Dispenzieri, Angela; Coelho, Teresa; Conceição, Isabel; Waddington Cruz, Marcia; Wixner, Jonas; Kristen, Arnt V.; Rapezzi, Claudio; Planté-Bordeneuve, Violaine; Gonzalez-Moreno, Juan; Maurer, Mathew S.; Grogan, Martha; Chapman, Doug; Amass, Leslie; Barroso, Fabio Adrián; THAOS investigators (BioMed Central, 2022-06-18)

Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral ...

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