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Article

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.

Clinical endocrinology - 1 Feb 2013

Visser W Edward, Vrijmoeth Paul, Visser Frank E, Arts Willem Frans M, van Toor Hans, Visser Theo J

Abstract excerpt

OBJECTIVE: Monocarboxylate transporter 8 (MCT8) is an essential thyroid hormone (TH) transporter as humans with MCT8 mutations have severe neurological and endocrine abnormalities. The objectives are (i) to identify novel MCT8 mutations and (ii) to assess their functional relevance; (iii) to describe the effects of block-and-replace treatment in an MCT8 patient. DESIGN: The TOP-R study is a cross-sectional...

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PMID: 22924588
DOI: 10.1111/cen.12023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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