Publications & Data
Publications & Data
Scientific publications and clinical data support the responsible development of our therapies and contribute to the broader medical understanding of rare diseases.
This section provides access to relevant publications related to the therapeutic areas in focus.
MCT8 deficiency
| Publication | Journal | Year | Link |
|---|---|---|---|
| Groeneweg et al. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study | Lancet Diabetes & Endocrinology | 2020 | PubMed |
| Sarret et al. Allan-Herndon-Dudley Syndrome | GeneReviews | 2020 | NCBI Bookshelf |
| van Geest et al. Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study | Journal of Clinical Endocrinology & Metabolism | 2024 | PubMed |
| Bauer et al. Unmet Patient Needs in Monocarboxylate Transporter 8 (MCT8) Deficiency: A Review | Frontiers in Pediatrics | 2024 | PubMed |
| Boelaert et al. Thyrotoxicosis in MCT8 Deficiency | Journal of Clinical Endocrinology & Metabolism | 2026 | PubMed |
Resistance to Thyroid Hormone Beta (RTH-beta)
| Publication | Journal | Year | Link |
|---|---|---|---|
| Pappa et al. Resistance to Thyroid Hormone Beta: A Focused Review | Frontiers in Endocrinology | 2021 | PubMed |
| Dumitrescu et al. Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism, and Action | Endotext | 2023 | PubMed |
| Okosieme et al. 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 |
| Campi et al. 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 |
| Illouz et al. Cardiac Complications of Thyroid Hormone Resistance Syndromes | Annales d’Endocrinologie | 2021 | PubMed |
| Moran et al. Genetic Disorders of Thyroid Development, Hormone Biosynthesis and Signalling | Clinical Endocrinology | 2022 | PubMed |
Patents & Intellectual Property
Intellectual property protection is an important part of Egetis’ strategy to support the development and commercialization of therapies for rare diseases. The Company maintains…
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