Familial dysalbuminemic hyperthyroxinemia in a 12‐year‐old girl
Sign Up to like & getrecommendations! Published in 2019 at "Pediatrics International"
DOI: 10.1111/ped.13839
Abstract: 1 Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T et al. Clinical and molecular characterization of patients with heterozygous mutations in Wilms tumor suppressor gene 1. Clin. J. Am. Soc. Nephrol. 2015; 10: 825–31. 2 Nagatani K,… read more here.
Keywords: familial dysalbuminemic; old girl; hyperthyroxinemia year; soc nephrol ... See more keywords
Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0087
Abstract: Abstract Objectives Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene. Case presentation We report, a three-year-old boy with FDH due to p.R242P (or p.R218P… read more here.
Keywords: familial dysalbuminemic; molecular diagnosis; gene; dysalbuminemic hyperthyroxinemia ... See more keywords
Clinical characteristics of familial dysalbuminemic hyperthyroxinemia in Chinese patients and comparison of free thyroxine in three immunoassay methods
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1102777
Abstract: Objective Familial dysalbuminemic hyperthyroxinemia (FDH) has not been thoroughly studied in the Chinese population to date. The clinical characteristics of FDH in Chinese patients were summarized, and the susceptibility of common free thyroxine (FT4) immunoassay… read more here.
Keywords: patients r218h; familial dysalbuminemic; dysalbuminemic hyperthyroxinemia; chinese patients ... See more keywords