Publikationer & data
Publikationer & data
Vetenskapliga publikationer och kliniska data stödjer den ansvarsfulla utvecklingen av våra behandlingar och bidrar till den bredare medicinska förståelsen av sällsynta sjukdomar.
Detta avsnitt ger tillgång till relevanta publikationer, presentationer och vetenskapligt material kopplat till Egetis utvecklingsprogram.
MCT8-brist
| Publikation | Tidskrift | År | Länk |
|---|---|---|---|
| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study | Lancet Diabetes & Endocrinology | 2020 | PubMed |
| Allan-Herndon-Dudley Syndrome | GeneReviews | 2020 | NCBI Bookshelf |
| Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study | Journal of Clinical Endocrinology & Metabolism | 2024 | PubMed |
| Unmet Patient Needs in Monocarboxylate Transporter 8 (MCT8) Deficiency: A Review | Frontiers in Pediatrics | 2024 | PubMed |
| Thyrotoxicosis in MCT8 Deficiency | Journal of Clinical Endocrinology & Metabolism | 2026 | PubMed |
Resistens mot sköldkörtelhormonet beta (RTH-beta)
| Publikation | Tidskrift | År | Länk |
|---|---|---|---|
| Resistance to Thyroid Hormone Beta: A Focused Review | Frontiers in Endocrinology | 2021 | PubMed |
| Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism, and Action | Endotext | 2023 | PubMed |
| Cardiovascular Morbidity and Mortality in Patients in Wales, UK with Resistance to Thyroid Hormone β (RTHβ): A Linked-Record Cohort Study | Lancet Diabetes & Endocrinology | 2023 | PubMed |
| Increased Cardiovascular Morbidity and Reduced Life Expectancy in a Large Italian Cohort of Patients with Resistance to Thyroid Hormone β (RTHβ) | European Journal of Endocrinology | 2024 | PubMed |
| Cardiac Complications of Thyroid Hormone Resistance Syndromes | Annales d’Endocrinologie | 2021 | PubMed |
| Genetic Disorders of Thyroid Development, Hormone Biosynthesis and Signalling | Clinical Endocrinology | 2022 | PubMed |