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Volumn 53, Issue 4, 2016, Pages 504-507

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

Author keywords

albumin variant; discordant thyroid function tests; Familial dysalbuminaemic hyperthyroxinaemia; mass spectrometry

Indexed keywords

ADENINE; ARGININE; GUANINE; HISTIDINE; SERUM ALBUMIN;

EID: 84971472890     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1177/0004563215598168     Document Type: Article
Times cited : (9)

References (9)
  • 1
    • 0028024140 scopus 로고
    • An identical missence mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families
    • T.SunthornthepvarakulP.AngkeowR.E.Weiss. An identical missence mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun1994; 202: 781–787.
    • (1994) Biochem Biophys Res Commun , vol.202 , pp. 781-787
    • Sunthornthepvarakul, T.1    Angkeow, P.2    Weiss, R.E.3
  • 2
    • 84902148314 scopus 로고    scopus 로고
    • A novel mutation in the albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction
    • S.M.GreenbergA.M.FerraraE.S.Nicholas. A novel mutation in the albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid2014; 24: 945–950.
    • (2014) Thyroid , vol.24 , pp. 945-950
    • Greenberg, S.M.1    Ferrara, A.M.2    Nicholas, E.S.3
  • 3
    • 84904052424 scopus 로고    scopus 로고
    • A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia
    • N.SchoenmakersC.MoranI.Campi. A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. JCEM2014; 99: E1381–E1386.
    • (2014) JCEM , vol.99 , pp. E1381-E1386
    • Schoenmakers, N.1    Moran, C.2    Campi, I.3
  • 4
    • 65949085589 scopus 로고    scopus 로고
    • Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge [Letter]
    • D.CartwrightP.O’SheaO.Rajanayagam. Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge [Letter]. Clin Chem2009; 55: 1044–1046.
    • (2009) Clin Chem , vol.55 , pp. 1044-1046
    • Cartwright, D.1    O’Shea, P.2    Rajanayagam, O.3
  • 5
    • 84897565168 scopus 로고    scopus 로고
    • Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative γ211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia
    • S.O.BrennanH.MangosJ.Faed. Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative γ211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia. Thromb Haemost2014; 111: 679–684.
    • (2014) Thromb Haemost , vol.111 , pp. 679-684
    • Brennan, S.O.1    Mangos, H.2    Faed, J.3
  • 6
    • 84913535781 scopus 로고    scopus 로고
    • Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma
    • S.O.BrennanC.RolloH.C.Potter. Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma. Clin Chim Acta2015; 440: 40–43.
    • (2015) Clin Chim Acta , vol.440 , pp. 40-43
    • Brennan, S.O.1    Rollo, C.2    Potter, H.C.3
  • 7
    • 0033625049 scopus 로고    scopus 로고
    • Familial dysalbuminemic hyperthyroxinemia may result in altered warfarin pharmacokinetics
    • C.E.PetersenC.HaK.Harohalli. Familial dysalbuminemic hyperthyroxinemia may result in altered warfarin pharmacokinetics. Chem Biol Interact2000; 124: 161–172.
    • (2000) Chem Biol Interact , vol.124 , pp. 161-172
    • Petersen, C.E.1    Ha, C.2    Harohalli, K.3
  • 8
    • 79952230670 scopus 로고    scopus 로고
    • Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia [Letter]
    • H.A.RossY.B.de RijkeF.C.G.J.Sweep. Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia [Letter]. Clin Chem2011; 57: 524–531.
    • (2011) Clin Chem , vol.57 , pp. 524-531
    • Ross, H.A.1    de Rijke, Y.B.2    Sweep, F.C.G.J.3
  • 9
    • 0029795718 scopus 로고    scopus 로고
    • 109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone –a clinical research center study
    • 109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone –a clinical research center study. JCEM1996; 81: 3335–3340.
    • (1996) JCEM , vol.81 , pp. 3335-3340
    • Refetoff, S.1    Marinov, V.S.Z.2    Tunca, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.