Associated Papers
Thyrotoxicosis in MCT8 deficiency.
Boelaert K et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic and Neurological Deficiencies in the Visual System of mct8 Mutant Zebrafish.
Rozenblat R et al.
International Journal of Molecular Sciences, 2022
Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
van Geest FS et al.
Frontiers in Endocrinology, 2021
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
[Differential diagnosis between autoimmune thyrotoxicosis and thyroid hormone resistance syndrome: clinical case report].
Mazurina NV et al.
Problemy Endokrinologii, 2019
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
Shimojima K et al.
Intractable & Rare Diseases Research, 2016
Effect of Triiodothyroacetic Acid Treatment in Mct8 Deficiency: A Word of Caution.
Bárez-López S et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome.
García-de Teresa B et al.
Thyroid : Official Journal of the American Thyroid Association, 2015
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
Yamamoto T et al.
Human Genome Variation, 2014
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Gika AD et al.
Developmental Medicine and Child Neurology, 2010
Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent.
Kinne A et al.
Journal of Molecular Endocrinology, 2009
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Di Cosmo C et al.
Endocrinology, 2009
Minireview: Pathophysiological importance of thyroid hormone transporters.
Heuer H et al.
Endocrinology, 2009
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.
Namba N et al.
European Journal of Pediatrics, 2008
Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.
Wémeau JL et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency.
Sijens PE et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Dumitrescu AM et al.
Endocrinology, 2006
Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.
Biebermann H et al.
European Journal of Endocrinology, 2005
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
Friesema EC et al.
Lancet (london, England), 0