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
The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case-Control Research.
Kaur M et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2025
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
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
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
Çatli G et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
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
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
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