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Article

Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2018

Monteiro Cecilia, Martins da Silva Ana, Ferreira Natália, Mesgarzadeh Jaleh, Novais Marta, Coelho Teresa, Kelly Jeffery W

Abstract excerpt

Hereditary transthyretin (TTR) amyloidosis associated with the TTRV30M (p.TTRV50M) mutation presents predominantly as an axonal polyneuropathy, with variable involvement of other organs. Serious central nervous system (CNS) and eye manifestations, including stroke, dementia, vitreous opacities and glaucoma, have been reported in untreated V30M TTR amyloidosis patients, and in these patients after treatment with...

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Share to Administration, Oral
Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromatography, High Pressure Liquid

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Source

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Identifiers

PMID: 29993288
DOI: 10.1080/13506129.2018.1479249
PMCID: PMC6177313

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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