Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Child Neurology"
DOI: 10.1177/0883073818770597
Abstract: Allan-Herndon-Dudley syndrome is a rare X-linked neurologic condition caused by mutations in monocarboxylate transporter 8 (MCT8), which leads to deficient thyroid hormone transport. Typical features include severe cognitive impairment, truncal hypotonia, spastic paraplegia, weakness, and… read more here.
Keywords: dudley syndrome; allan herndon; patients allan; herndon dudley ... See more keywords
Mathematical modeling and simulation of thyroid homeostasis: Implications for the Allan-Herndon-Dudley syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.882788
Abstract: Introduction A mathematical model of the pituitary-thyroid feedback loop is extended to deepen the understanding of the Allan-Herndon-Dudley syndrome (AHDS). The AHDS is characterized by unusual thyroid hormone concentrations and a mutation in the SLC16A2… read more here.
Keywords: hormone; dudley syndrome; thyroid; herndon dudley ... See more keywords