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Disease on EC 1.21.1.1 - iodotyrosine deiodinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Congenital Hypothyroidism
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Goiter
Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
Towards the timely diagnosis of hypothyroidism caused by DEHAL1 gene defects.
[Quantitative aspects of iodine metabolism in one case of congenital iodotyrosine deiodinase defect (author's transl)]
Graves Disease
Characterisation of DEHAL1 expression in thyroid pathologies.
Hyperthyroidism
A Nonradioactive DEHAL Assay for Testing Substrates, Inhibitors, and Monitoring Endogenous Activity.
Hypothyroidism
Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.
Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
Towards the timely diagnosis of hypothyroidism caused by DEHAL1 gene defects.
[Quantitative aspects of iodine metabolism in one case of congenital iodotyrosine deiodinase defect (author's transl)]
Intellectual Disability
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
Towards the timely diagnosis of hypothyroidism caused by DEHAL1 gene defects.
iodotyrosine deiodinase deficiency
Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
Towards the timely diagnosis of hypothyroidism caused by DEHAL1 gene defects.
Thyroid Cancer, Papillary
Characterisation of DEHAL1 expression in thyroid pathologies.
Thyroid Carcinoma, Anaplastic
Characterisation of DEHAL1 expression in thyroid pathologies.
Thyroid Diseases
Iodotyrosine deiodinase isozymes in the normal and in thyroid diseases.
Thyroid Neoplasms
Characterisation of DEHAL1 expression in thyroid pathologies.
Thyroid Nodule
Characterisation of DEHAL1 expression in thyroid pathologies.
Thyrotoxicosis
Characterisation of DEHAL1 expression in thyroid pathologies.