Yıl: 2024 Cilt: 16 Sayı: 1 Sayfa Aralığı: 1 - 3 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2024.2024-1-23 İndeks Tarihi: 11-06-2024

Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges

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  • 5. Kersseboom S, Horn S, Visser WE, Chen J, Friesema EC, Vaurs-Barrière C, Peeters RP, Heuer H, Visser TJ. In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency. Mol Endocrinol 2014;28:1961-1970.
  • 6. Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE. Thyroid Hormone Transporters. Endocr Rev 2020;41:bnz008.
  • 7. 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. 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. Lancet Diabetes Endocrinol 2019;7:695-706. Epub 2019 Jul 31
  • 8. van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. J Clin Endocrinol Metab 2022;107:1136-1147.
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  • 11. Hoffman C, Berrens M. Landscape of genetic testing for monocarboxylate transporter 8 (MCT8) deficiency. 2023. Available from: https://www. egetis.com/wp-content/uploads/Hoffman_SSIEM_2023_Landscape-of- genetic-testing-for-MCT8-deficiency-004.pdf
  • 12. Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency. Thyroid 2021;31:1316-1321.
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  • 14. Zada D, Tovin A, Lerer-Goldshtein T, Appelbaum L. Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish. Dis Model Mech Dis Model Mech 2016;9:1339-1348.
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APA Freund M, van der Most F, Visser W (2024). Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. , 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
Chicago Freund Matthijs,van der Most Floor,Visser W. Edward Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. (2024): 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
MLA Freund Matthijs,van der Most Floor,Visser W. Edward Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. , 2024, ss.1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
AMA Freund M,van der Most F,Visser W Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. . 2024; 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
Vancouver Freund M,van der Most F,Visser W Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. . 2024; 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
IEEE Freund M,van der Most F,Visser W "Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges." , ss.1 - 3, 2024. 10.4274/jcrpe.galenos.2024.2024-1-23
ISNAD Freund, Matthijs vd. "Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges". (2024), 1-3. https://doi.org/10.4274/jcrpe.galenos.2024.2024-1-23
APA Freund M, van der Most F, Visser W (2024). Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. Journal of Clinical Research in Pediatric Endocrinology, 16(1), 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
Chicago Freund Matthijs,van der Most Floor,Visser W. Edward Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. Journal of Clinical Research in Pediatric Endocrinology 16, no.1 (2024): 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
MLA Freund Matthijs,van der Most Floor,Visser W. Edward Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. Journal of Clinical Research in Pediatric Endocrinology, vol.16, no.1, 2024, ss.1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
AMA Freund M,van der Most F,Visser W Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. Journal of Clinical Research in Pediatric Endocrinology. 2024; 16(1): 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
Vancouver Freund M,van der Most F,Visser W Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges. Journal of Clinical Research in Pediatric Endocrinology. 2024; 16(1): 1 - 3. 10.4274/jcrpe.galenos.2024.2024-1-23
IEEE Freund M,van der Most F,Visser W "Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges." Journal of Clinical Research in Pediatric Endocrinology, 16, ss.1 - 3, 2024. 10.4274/jcrpe.galenos.2024.2024-1-23
ISNAD Freund, Matthijs vd. "Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges". Journal of Clinical Research in Pediatric Endocrinology 16/1 (2024), 1-3. https://doi.org/10.4274/jcrpe.galenos.2024.2024-1-23