Reverse T3 Level and T3 to Reverse T3 Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Diagnosis of MCT8 Deficiency

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X- chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transporter across cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as wel...

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Detalles Bibliográficos
Autores principales: Iwayama, Hideyuki, Kakita, Hiroki, Iwasa, Masumi, Adachi, Shinsuke, Takano, Kyoko, Kikuchi, Masahiro, Fujisawa, Yasuko, Osaka, Hitoshi, Yamada, Yasumasa, Okumura, Akihisa, Refetoff, Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Thyroid
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089738/
http://dx.doi.org/10.1210/jendso/bvab048.1998

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089738/
http://dx.doi.org/10.1210/jendso/bvab048.1998

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