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5. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by Refetoff S; Pappa T; Williams MK; Matheus MG; Liao XH; Hansen K; Nicol L; Pierce M; Blasco PA; Wiebers Jensen M; Bernal J; Weiss RE; Dumitrescu AM; LaFranchi S Thyroid; 2021 May; 31(5):713-720. PubMed ID: 32746752 [No Abstract] [Full Text] [Related]
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7. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. Armour CM; Kersseboom S; Yoon G; Visser TJ PLoS One; 2015; 10(10):e0139343. PubMed ID: 26426690 [TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C; Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843 [TBL] [Abstract][Full Text] [Related]
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10. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. Langley KG; Trau S; Bean LJ; Narravula A; Schrier Vergano SA Am J Med Genet A; 2015 May; 167A(5):1117-20. PubMed ID: 25755011 [TBL] [Abstract][Full Text] [Related]
11. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. Groeneweg S; Peeters RP; Moran C; Stoupa A; Auriol F; Tonduti D; Dica A; Paone L; Rozenkova K; Malikova J; van der Walt A; de Coo IFM; McGowan A; Lyons G; Aarsen FK; Barca D; van Beynum IM; van der Knoop MM; Jansen J; Manshande M; Lunsing RJ; Nowak S; den Uil CA; Zillikens MC; Visser FE; Vrijmoeth P; de Wit MCY; Wolf NI; Zandstra A; Ambegaonkar G; Singh Y; de Rijke YB; Medici M; Bertini ES; Depoorter S; Lebl J; Cappa M; De Meirleir L; Krude H; Craiu D; Zibordi F; Oliver Petit I; Polak M; Chatterjee K; Visser TJ; Visser WE Lancet Diabetes Endocrinol; 2019 Sep; 7(9):695-706. PubMed ID: 31377265 [TBL] [Abstract][Full Text] [Related]
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14. MCT8 deficiency in Purkinje cells disrupts embryonic chicken cerebellar development. Delbaere J; Vancamp P; Van Herck SL; Bourgeois NM; Green MJ; Wingate RJ; Darras VM J Endocrinol; 2017 Feb; 232(2):259-272. PubMed ID: 27879339 [TBL] [Abstract][Full Text] [Related]
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17. Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination. Lee JY; Kim MJ; Deliyanti D; Azari MF; Rossello F; Costin A; Ramm G; Stanley EG; Elefanty AG; Wilkinson-Berka JL; Petratos S EBioMedicine; 2017 Nov; 25():122-135. PubMed ID: 29111262 [TBL] [Abstract][Full Text] [Related]
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19. Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. Kobayashi S; Onuma A; Inui T; Wakusawa K; Tanaka S; Shimojima K; Yamamoto T; Haginoya K Pediatr Neurol; 2014 Sep; 51(3):414-6. PubMed ID: 25160547 [TBL] [Abstract][Full Text] [Related]
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