Allan-Herndon-Dudley-Syndrome in Childhood: Is there No Cure?

References (28)

1. 1 Thyroid Hormone Transporters [DOI]
2. 2 Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study [DOI]
3. 3 Essential Molecular Determinants for Thyroid Hormone Transport and First Structural Implications for Monocarboxylate Transporter 8 [DOI]
4. 4 MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression [DOI]
5. 5 Neurogenetics of Pelizaeus–Merzbacher disease [DOI]
6. 6 Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes [DOI]
7. 7 Knockdown of Monocarboxylate Transporter 8 (mct8) Disturbs Brain Development and Locomotion in Zebrafish [DOI]
8. 8 Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination [DOI]
9. 9 Thyroid Hormone Transporters and Resistance [DOI]
10. 10 Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation [DOI]
11. 11 Thyroid hormone transporter Mct8/Oatp1c1 deficiency compromises proper oligodendrocyte maturation in the mouse CNS [DOI]
12. 12 Therapeutic applications of thyroid hormone analogues [DOI]
13. 13 Propylthiouracil (PTU) Pharmacology in the Rat,II. Effects of PTU on Thyroid Function* [DOI]
14. 14 Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH [DOI]
15. 15 Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature [DOI]
16. 16 Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations [DOI]
17. 17 Snyder-Robinson Syndrome: An Autopsy Case Report [DOI]
18. 18 First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center [DOI]
19. 19 Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency [DOI]
20. 20 Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening [DOI]
21. 21 Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan–Herndon–Dudley Syndrome [DOI]
22. 22 Allan–Herndon–Dudley syndrome with unusual profound sensorineural hearing loss [DOI]
23. 23 Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series [DOI]
24. 24 MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene [DOI]
25. 25 Proteome Analysis of Thyroid Hormone Transporter Mct8/Oatp1c1-Deficient Mice Reveals Novel Dysregulated Target Molecules Involved in Locomotor Function [DOI]
26. 26 Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome [DOI]
27. 27 Triac in the treatment of Allan–Herndon–Dudley syndrome [DOI]
28. 28 Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome [DOI]

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