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Document type:
Journal Article 
Author(s):
Krude, Heiko; Biebermann, Heike; Schuelke, Markus; Müller, Timo D; Tschöp, Matthias 
Title:
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. 
Abstract:
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from neurodevelopmental delay, as well as extrapyramidal (dystonia, chorea, athe...    »
 
Journal title abbreviation:
Exp Clin Endocrinol Diabetes 
Year:
2020 
Journal volume:
128 
Journal issue:
6-07 
Pages contribution:
414-422 
Fulltext / DOI:
Print-ISSN:
0947-7349 
TUM Institution:
Lehrstuhl für Stoffwechselerkrankungen (Prof. Tschöp)