Literature DB >> 19282355

Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.

David Cartwright, Paula O'Shea, Odelia Rajanayagam, Maura Agostini, Peter Barker, Carla Moran, Enrico Macchia, Aldo Pinchera, Rhys John, Amar Agha, H Alec Ross, V Krishna Chatterjee, David J Halsall.   

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Year:  2009        PMID： 19282355     DOI： 10.1373/clinchem.2008.120303

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  12 in total

1.  Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.

Authors:  Luciano S Ramos; Marina M L Kizys; Ilda S Kunii; Angela M Spinola-Castro; Suzana Nesi-França; Ricardo A Guerra; Cleber P Camacho; João R M Martins; Rui M B Maciel; Magnus R Dias-da-Silva; Maria I Chiamolera
Journal:  Endocrine       Date:  2018-07-19       Impact factor: 3.633

2.  Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

Authors:  Mizuho S Mimoto; Anara Karaca; Neal Scherberg; Alexandra M Dumitrescu; Samuel Refetoff
Journal:  Thyroid       Date:  2018-05-24       Impact factor: 6.568

3.  A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.

Authors:  Solomon Maximo Greenberg; Alfonso Massimiliano Ferrara; Everton S Nicholas; Alexandra M Dumitrescu; Vivian Cody; Roy E Weiss; Samuel Refetoff
Journal:  Thyroid       Date:  2014-03-21       Impact factor: 6.568

4.  Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.

Authors:  Samuel Refetoff; Neal H Scherberg; Chao Yuan; William Wu; Zengru Wu; Michael J McPhaul
Journal:  Thyroid       Date:  2020-01       Impact factor: 6.568

5.  Rare thyroid non-neoplastic diseases.

Authors:  Katarzyna Lacka; Adam Maciejewski
Journal:  Thyroid Res       Date:  2015-04-11

6.  First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.

Authors:  Yoon Young Cho; Ju Sun Song; Hyung Doo Park; Young Nam Kim; Hye In Kim; Tae Hyuk Kim; Jae Hoon Chung; Chang Seok Ki; Sun Wook Kim
Journal:  Ann Lab Med       Date:  2017-01       Impact factor: 3.464

7.  Clinical case seminar: unraveling the mystery of abnormal thyroid function tests.

Authors:  Ariel Barkan; Ronald J Koenig
Journal:  Clin Diabetes Endocrinol       Date:  2015-09-11

Review 8.  Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.

Authors:  Ulrich Kragh-Hansen; Monica Galliano; Lorenzo Minchiotti
Journal:  Front Endocrinol (Lausanne)       Date:  2017-11-01       Impact factor: 5.555

9.  A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.

Authors:  Hongbing Liu; Jianmin Ran; Chuping Chen; Guangshu Chen; Ping Zhu; Rongshao Tan; Yan Liu
Journal:  Int J Endocrinol       Date:  2019-09-09       Impact factor: 3.257

10.  A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.

Authors:  Nadia Schoenmakers; Carla Moran; Irene Campi; Maura Agostini; Olivia Bacon; Odelia Rajanayagam; John Schwabe; Sonia Bradbury; Timothy Barrett; Frank Geoghegan; Maralyn Druce; Paolo Beck-Peccoz; Angela O'Toole; Penelope Clark; Michelle Bignell; Greta Lyons; David Halsall; Mark Gurnell; Krishna Chatterjee
Journal:  J Clin Endocrinol Metab       Date:  2014-03-19       Impact factor: 5.958
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