Associated Papers
Coexistence of familial dysalbuminemic hyperthyroixinemia and papillary thyroid carcinoma: a rare case report and diagnostic challenge.
Li Y et al.
Therapeutic Advances in Endocrinology and Metabolism, 2025
Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.
Turkkahraman D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Discordant thyroid function tests-beware of albumin variants.
Li B et al.
The New Zealand Medical Journal, 2024
A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate-Avoiding Unnecessary Treatment.
Brown A et al.
International Journal of Neonatal Screening, 2023
Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods.
Zhao L et al.
Frontiers in Endocrinology, 2023
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G et al.
International Journal of Molecular Sciences, 2022
Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia.
Abali S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Familial Dysalbuminemic Hyperthyroxinemia as a Cause for Discordant Thyroid Function Tests.
Ting MJM et al.
Journal of the Endocrine Society, 2021
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 2020
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.
Liu H et al.
International Journal of Endocrinology, 2019
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
Ramos LS et al.
Endocrine, 2018
Effect of Albumin Polymorphism on Thyroid Hormones: A Case Report and Literature Review.
Mahendhar R et al.
Cureus, 2018
Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.
Zakerska-Banaszak O et al.
Scientific Reports, 2017
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.
Cho YY et al.
Annals of Laboratory Medicine, 2017
Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis.
Ryan JB et al.
Annals of Clinical Biochemistry, 2016
Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.
Minchiotti L et al.
Human Mutation, 2008
[Point mutations behind familial dysalbuminemic hyperthyroxinemia].
Nørby S
Ugeskrift for Laeger, 2008
Case report: familial dysalbuminemic hyperthyroxinemia--a variant.
Goldman MH et al.
The Journal of the Medical Society of New Jersey, 1984