Translational studies in thyroid hormone transport

2021 ◽  
Author(s):  
Edward Visser
1989 ◽  
Vol 120 (3_Suppl) ◽  
pp. S44-S45
Author(s):  
J. RAMAKER ◽  
P. C. SCRIBA ◽  
W. G. WOOD

2016 ◽  
Author(s):  
Jiesi Chen ◽  
Steffen Mayerl ◽  
Heike Heuer

1989 ◽  
pp. 39-50 ◽  
Author(s):  
Jacob Robbins ◽  
Edison Goncalves ◽  
Mark Lakshmanan ◽  
Daniels Foti

2007 ◽  
Vol 21 (2) ◽  
pp. 223-236 ◽  
Author(s):  
W. Edward Visser ◽  
Edith C.H. Friesema ◽  
Jurgen Jansen ◽  
Theo J. Visser

2018 ◽  
Vol 33 (8) ◽  
pp. 525-527 ◽  
Author(s):  
Cole J. Swiston ◽  
David L. Nash

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 speech difficulties. Minimal literature exists describing the ocular findings in patients with Allan-Herndon-Dudley syndrome. We describe 4 male siblings affected with Allan-Herndon-Dudley syndrome with a novel nonsense mutation (Q90X) in the MCT8 protein. All affected siblings presented with classic findings of Allan-Herndon-Dudley syndrome, and each of the siblings also developed intermittent esotropia. This group of affected siblings represents the first consistent documentation of strabismus in Allan-Herndon-Dudley syndrome, suggesting a possible association between this clinical finding and the neurologic syndrome.


2019 ◽  
Vol 26 (2) ◽  
pp. 59-66
Author(s):  
Hadi Zarif ◽  
Agnès Paquet ◽  
Kevin Lebrigand ◽  
Marie-Jeanne Arguel ◽  
Catherine Heurteaux ◽  
...  

2016 ◽  
Vol 77 (6) ◽  
pp. 680-683 ◽  
Author(s):  
Theo J. Visser

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