15 research outputs found

    New Insights into Thyroglobulin Pathophysiology Revealed by the Study of a Family with Congenital Goiter

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    Context: Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease

    Chest pain due to coronary artery disease alters stress neuropeptide levels: Potential implications for clinical assessment

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