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Article

Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis.

Annals of clinical biochemistry - 1 Jul 2016

Ryan Joshua B, Brennan Stephen O, Potter Howard, Wolmarans Louise, Florkowski Christopher M, George Peter M

Abstract excerpt

BACKGROUND: Familial dysalbuminaemic hyperthyroxinaemia is an important cause of discordant thyroid function test results (due to an inherited albumin variant); however, the diagnosis can be challenging. A 51-year-old man had persistently elevated free thyroxine (T4), with discordant normal thyroid-stimulating hormone and normal free triiodothyronine. He was clinically euthyroid and had a daughter with similar...

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PMID: 26169058
DOI: 10.1177/0004563215598168

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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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