Associated Papers
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
38963712 (PubMed )
Supplement: supplementary_table_2.pdf
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E et al.
Nature Communications, 2023
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Fu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Iodothyronine deiodinases and reduced sensitivity to thyroid hormones.
Paragliola RM et al.
Frontiers in Bioscience (landmark Edition), 2020
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Fu J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2014
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
Inherited defects of thyroid hormone metabolism.
Dumitrescu AM et al.
Annales D'endocrinologie, 2011
Resistance to thyroid hormone with and without receptor gene mutations.
Refetoff S
Annales D'endocrinologie, 2003
[Inherited defects of thyroid hormone biosynthesis].
Ieiri T et al.
Ryoikibetsu Shokogun Shirizu, 1993
Inherited defects in thyroid hormone synthesis.
McGirr EM
Annals of Clinical Research, 1972
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