Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency

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

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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, Hirani, Khemraj, Weiss, Roy E., Refetoff, Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2021
Materias:
Original Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558056/
https://www.ncbi.nlm.nih.gov/pubmed/34049438
http://dx.doi.org/10.1089/thy.2020.0696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558056/
https://www.ncbi.nlm.nih.gov/pubmed/34049438
http://dx.doi.org/10.1089/thy.2020.0696

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