 Hyperthyroxinemia, Familial Dysalbuminemic
"Hyperthyroxinemia, Familial Dysalbuminemic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4.
| Descriptor ID |
D050010
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| MeSH Number(s) |
C16.320.427 C19.874.410.249
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Hyperthyroxinemia, Familial Dysalbuminemic".
Below are MeSH descriptors whose meaning is more specific than "Hyperthyroxinemia, Familial Dysalbuminemic".
This graph shows the total number of publications written about "Hyperthyroxinemia, Familial Dysalbuminemic" by people in this website by year, and whether "Hyperthyroxinemia, Familial Dysalbuminemic" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2014 | 1 | 0 | 1 | | 2015 | 2 | 0 | 2 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hyperthyroxinemia, Familial Dysalbuminemic" by people in Profiles.
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Refetoff S, Scherberg NH, Yuan C, Wu W, Wu Z, McPhaul MJ. Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. Thyroid. 2020 01; 30(1):37-41.
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Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
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Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47.
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Choudhary A, Sriphrapradang C, Refetoff S, Antal Z. Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. J Pediatr Endocrinol Metab. 2015 Jan; 28(1-2):241-5.
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Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50.
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