Associated Papers
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S et al.
Nature Communications, 2025
40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM1_ESM.pdf
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
Iwayama H et al.
Frontiers in Neurology, 2021
Disorder of thyroid hormone transport into the tissues.
Groeneweg S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
Kobayashi S et al.
Pediatric Neurology, 2014
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