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
Hoppa till verktygsfältet