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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.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Iwayama H, et al. Thyroid. 2021 Sep;31(9):1316-1321. doi: 10.1089/thy.2020.0696. Epub 2021 Jul 2. Thyroid. 2021. PMID: 34049438 Free PMC article.
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium; Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N. Cangul H, et al. Among authors: iwayama h. JCI Insight. 2018 Oct 18;3(20):e99631. doi: 10.1172/jci.insight.99631. JCI Insight. 2018. PMID: 30333321 Free PMC article.
91 results