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Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms

We herein report the case of a Japanese woman with familial dysalbuminemic hyperthyroxinemia (FDH) who was initially diagnosed with Graves' disease. Direct genomic sequencing revealed a guanine to cytosine transition in the second nucleotide of codon 218 in exon 7 of the albumin gene, which the...

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Detalles Bibliográficos
Autores principales: Fukaishi, Takahiro, Sekiguchi, Yoshihiro, Hara, Yoshihito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596280/
https://www.ncbi.nlm.nih.gov/pubmed/28781323
http://dx.doi.org/10.2169/internalmedicine.8619-16