{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T01:03:57Z","timestamp":1778893437621,"version":"3.51.4"},"reference-count":53,"publisher":"Georg Thieme Verlag KG","issue":"06\/07","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Despite its first description more than 75 years ago, effective treatment for\n                    \u201cAllan-Herndon-Dudley-Syndrome (AHDS)\u201d, an X-linked thyroid\n                    hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene\n                    have been discovered to be causative for AHDS in 2004, but a comprehensive\n                    understanding of the function of the encoded protein, monocarboxylate\n                    transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from\n                    neurodevelopmental delay, as well as extrapyramidal (dystonia, chorea,\n                    athetosis), pyramidal (spasticity), and cerebellar symptoms (ataxia). This\n                    suggests an affection of the pyramidal tracts, basal ganglia, and\n                        cerebellum, most likely already during fetal brain development. The\n                    function of other brain areas relevant for mood, behavior, and vigilance seems\n                    to be intact. An optimal treatment strategy should thus aim to deliver T3 to\n                    these relevant structures at the correct time points during development. A\n                    potential therapeutic strategy meeting these needs might be the delivery of T3\n                        via a \u201cTrojan horse mechanism\u201d by which T3 is\n                    delivered into target cells by a thyroid hormone transporter independent T3\n                    internalization.<\/jats:p>","DOI":"10.1055\/a-1108-1456","type":"journal-article","created":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T00:13:37Z","timestamp":1585872817000},"page":"414-422","source":"Crossref","is-referenced-by-count":9,"title":["Allan-Herndon-Dudley-Syndrome: Considerations about the Brain\n                    Phenotype with Implications for Treatment Strategies"],"prefix":"10.1055","volume":"128","author":[{"given":"Heiko","family":"Krude","sequence":"additional","affiliation":[{"name":"Institute of Experimental Pediatric Endocrinology, Charit\u00e9 -\n                    Universit\u00e4tsmedizin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"Biebermann","sequence":"additional","affiliation":[{"name":"Institute of Experimental Pediatric Endocrinology, Charit\u00e9 -\n                    Universit\u00e4tsmedizin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Charit\u00e9 -\n                    Universit\u00e4tsmedizin, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timo D.","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Institute for Diabetes and Obesity, Helmholtz Diabetes Center at\n                    Helmholtz Centre Munich, Germany"},{"name":"German Center for Diabetes Research (DZD), Neuherberg,\n                    Germany"},{"name":"Department of Pharmacology and Experimental Therapy, Institute of\n                    Experimental and Clinical Pharmacology and Toxicology, Eberhard Karls University\n                    Hospitals and Clinics, T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Tsch\u00f6p","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Technische Universita\u0308t\n                    Mu\u0308nchen, Munich, Germany"},{"name":"German Center for Diabetes Research (DZD), Neuherberg,\n                    Germany"},{"name":"Helmholtz Zentrum M\u00fcnchen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,4,2]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/nrendo.2011.160","article-title":"Detection and treatment of congenital hypothyroidism","volume":"8","author":"A Gr\u00fcters","year":"2011","journal-title":"Nat Rev 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