Associated Papers
Thyroid hormone metabolism defect due to compound heterozygous SECISBP2 mutations: first reported case in Korea.
Yang J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (SECISBP2) gene mutation in a pediatric patient.
Almohammadi L et al.
Frontiers in Pediatrics, 2025
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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
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
Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.
Zhao W et al.
The Journal of Biological Chemistry, 2019
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
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
Selenoprotein-related disease in a young girl caused by nonsense mutations in the SBP2 gene.
Azevedo MF et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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