131 top medical experts on Familial Dysalbuminemic Hyperthyroxinemia across 12 countries and 4 U.S. states, including 10 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Familial Dysalbuminemic Hyperthyroxinemia: 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Genetic Diseases (2,477), Hyperthyroxinemia (114).


  

        

                    


    These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Refetoff, Samuel   Endocrinology, Diabetes & Metabolism   Google Publications
    Department of Medicine, The University of Chicago, Chicago, Illinois. Top Hospital
    Physician  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72.6/100
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Albumins; Arrhythmias, Cardiac; Homozygote; Hyperkinesis; Mutation
    Categories: Genetics; Blood; Etiology; Complications; Diagnosis; Growth & Development
    Inherited defects of thyroxine-binding proteins. (2015)
    A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. (2014)

  2. Dumitrescu, Alexandra M   Internal Medicine  Google Publications
    1 Department of Medicine, The University of Chicago , Chicago, Illinois. Top Hospital
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72.6/100
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Homozygote; Serum Albumin; Serum Albumin, Human; Thyroid Gland
    Categories: Genetics; Blood; Pathology
    A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. (2014)
    Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. (2018)

  3. Moran, Carla  Google Publications
    Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
    Scientist  Highly Published  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Hydrocortisone; Hyperthyroxinemia; Mutation; Mutation, Missense; Prealbumin
    Categories: Blood; Genetics; Complications; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  4. Chatterjee, Krishna  Google Publications
    Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
    Scientist  Highly Published  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Hydrocortisone; Hyperthyroxinemia; Mutation; Mutation, Missense; Prealbumin
    Categories: Blood; Genetics; Complications; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  5. Pappa, Theodora   Internal Medicine   Google Publications
    The University of Chicago, MC3090, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address: . Top Hospital
    Physician 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Thyroxine-Binding Proteins
    Categories: Genetics
    Inherited defects of thyroxine-binding proteins. (2015)

  6. Schoenmakers, Nadia  Google Publications
    Scientist  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Mutation, Missense; Prealbumin
    Categories: Genetics
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  7. Khoo, Serena  Google Publications
    University of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
    Scientist 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Thyroid Function Tests; Thyroid Hormones
    Categories: Blood; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)

  8. Atsumi, Tatsuya  Google Publications
    Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
    Scientist  Case Reports 
    Subjects: Hydrocortisone; Albumins; Cushing Syndrome; Hyperthyroxinemia, Familial Dysalbuminemic
    Categories: Metabolism; Blood; Diagnosis
    None (2022)

  9. Chiba, Koki  Google Publications
    Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
    Scientist  Case Reports 
    Subjects: Hydrocortisone; Albumins; Cushing Syndrome; Hyperthyroxinemia, Familial Dysalbuminemic
    Categories: Metabolism; Blood; Diagnosis
    None (2022)

  10. Mimoto, Mizuho S   Endocrinology, Diabetes & Metabolism  Google Publications
    1 Department of Medicine, The University of Chicago , Chicago, Illinois. Top Hospital
    Physician  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Homozygote; Serum Albumin, Human; Thyroid Gland
    Categories: Genetics; Blood; Pathology
    Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. (2018)

  11. Strey, Christopher  Google Publications
    eSwiss Medical and Surgical Center, St. Gallen, Switzerland.
    Scientist  Case Reports 
    Subjects: Hydrocortisone; Hyperthyroxinemia; Hyperthyroxinemia, Familial Dysalbuminemic; Mutation; Serum Albumin, Human
    Categories: Complications; Blood; Genetics
    Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia. (2020)

  12. Choudhary, Abha   Pediatric Endocrinology  Google Publications
    Physician  Case Reports 
    Disclosed payments in 2021 from 5 biomedical companies, totalling $74.12, including $18.2 from  Xeris Pharmaceuticals, Inc.
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Arrhythmias, Cardiac; Hyperkinesis; Tooth; Tooth Abnormalities
    Categories: Etiology; Complications; Diagnosis; Growth & Development
    Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. (2015)

  13. Greenberg, Solomon Maximo  Google Publications
    1 Department of Medicine, The University of Chicago , Chicago, llinois. Top Hospital
    Scientist 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Serum Albumin
    Categories: Genetics
    A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. (2014)

  14. McPhaul, Michael J  Google Publications
    Endocrine Division, Quest Diagnostics Nichols Institute, San Juan Capistrano, California.
    Scientist 
    Subjects: Albumins; Hyperthyroxinemia, Familial Dysalbuminemic; Mutation; Tandem Mass Spectrometry; Thyroxine
    Categories: Blood; Genetics; Methods
    Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. (2020)

  15. Phornphutkul, Chanika   Pediatric Endocrinology  Google Publications
    Departments of Pediatric and Pathology, The Warren Alpert Medical School, Providence, Rhode Island.
    Physician 
    Subjects: Abortion, Spontaneous; Child of Impaired Parents; Genetic Predisposition to Disease; Genetic Variation; Hyperthyroxinemia, Familial Dysalbuminemic; Serum Albumin, Human
    Categories: Genetics
    Familial Dysalbuminemic Hyperthyroxinemia (FDH), Albumin Gene Variant (R218S), and Risk of Miscarriages in Offspring. (2020)

  16. Kobayashi, Sakiko  Google Publications
    Department of Internal Medicine, Keio University School of Medicine, Tokyo 160-8582, Japan.
    Scientist  Case Reports 
    Subjects: Hyperpituitarism; Hyperthyroxinemia, Familial Dysalbuminemic
    Categories: Diagnosis
    A case of familial dysalbuminemic hyperthyroxinemia (FDH) in Japan: FDH as a possible differential diagnosis of syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH). (2017)

  17. Gurnell, Mark  Google Publications
    Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
    Scientist  Highly Published  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Hydrocortisone; Hyperthyroxinemia; Mutation; Mutation, Missense; Prealbumin
    Categories: Blood; Genetics; Complications; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  18. Halsall, David  Google Publications
    Department of Clinical Biochemistry, Addenbrookes Hospital, Cambridge, United Kingdom.
    Scientist  Highly Published  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Hydrocortisone; Hyperthyroxinemia; Mutation; Mutation, Missense; Prealbumin
    Categories: Blood; Genetics; Complications; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  19. Lyons, Greta  Google Publications
    Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
    Scientist  Highly Published  Case Reports 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Hydrocortisone; Hyperthyroxinemia; Mutation; Mutation, Missense; Prealbumin
    Categories: Blood; Genetics; Complications; Methods
    Familial dysalbuminaemic hyperthyroxinaemia interferes with current free thyroid hormone immunoassay methods. (2020)
    A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia. (2014)

  20. Ross, H Alec  Google Publications
    Scientist 
    Subjects: Hyperthyroxinemia, Familial Dysalbuminemic; Thyroxine
    Categories: Blood; Genetics
    Spuriously high free thyroxine values in familial dysalbuminemic hyperthyroxinemia. (2011)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

);