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Titel:

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Dokumenttyp:
Journal Article
Autor(en):
Krude, Heiko; Biebermann, Heike; Schuelke, Markus; Müller, Timo D; Tschöp, Matthias
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...     »
Zeitschriftentitel:
Exp Clin Endocrinol Diabetes
Jahr:
2020
Band / Volume:
128
Heft / Issue:
6-07
Seitenangaben Beitrag:
414-422
Volltext / DOI:
doi:10.1055/a-1108-1456
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32242326
Print-ISSN:
0947-7349
TUM Einrichtung:
Lehrstuhl für Stoffwechselerkrankungen (Prof. Tschöp)
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