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First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
Cho YY, Song JS, Park HD, Kim YN, Kim HI, Kim TH, Chung JH, Ki CS, Kim SW. Cho YY, et al. Ann Lab Med. 2017 Jan;37(1):63-65. doi: 10.3343/alm.2017.37.1.63. Ann Lab Med. 2017. PMID: 27834068 Free PMC article.
To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. ...
To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 …
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
Schoenmakers N, Moran C, Campi I, Agostini M, Bacon O, Rajanayagam O, Schwabe J, Bradbury S, Barrett T, Geoghegan F, Druce M, Beck-Peccoz P, O'Toole A, Clark P, Bignell M, Lyons G, Halsall D, Gurnell M, Chatterjee K. Schoenmakers N, et al. J Clin Endocrinol Metab. 2014 Jul;99(7):E1381-6. doi: 10.1210/jc.2013-4077. Epub 2014 Mar 19. J Clin Endocrinol Metab. 2014. PMID: 24646103 Free PMC article.
Molecular modeling indicates that arginine 222 is located within a high-affinity T4 binding site in albumin, with substitution by isoleucine, which has a smaller side chain predicted to reduce steric hindrance, thereby facilitating T4 and rT3 binding. ...
Molecular modeling indicates that arginine 222 is located within a high-affinity T4 binding site in albumin, with substitution by isoleucine …
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Mimoto MS, et al. Thyroid. 2018 Jun;28(6):811-814. doi: 10.1089/thy.2017.0564. Epub 2018 May 24. Thyroid. 2018. PMID: 29676214 Free PMC article.
He showed a greater increase in total thyroxine (T4) relative to that observed in heterozygous family members. The higher affinity of mutant HSA for T4, together with the large molar excess of HSA relative to thyroid hormones in serum, results in preferential association o …
He showed a greater increase in total thyroxine (T4) relative to that observed in heterozygous family members. The higher affinity of …