Subject:
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DCN NN - Brain networks and neuronal communication DCN PAC - Perception action and control IGMD 4: Glycostation disorders IGMD 6: Hormonal regulation |
Organization:
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Laboratory of Genetic, Endocrine and Metabolic Diseases Paediatrics - OUD tm 2017 Laboratory of Clinical Chemistry Neurology |
Journal title:
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Molecular Genetics and Metabolism
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Abstract:
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Glycoproteins are essential in the production, transport, storage and regulation of thyroid hormones. Altered glycosylation has a potential impact on thyroid function. Abnormal thyroid function tests have been described in patients with congenital disorders of glycosylation. We evaluated the reliability of biochemical markers and investigated thyroid function in 18 PMM2-CDG patients. We propose an expectative therapeutic approach for neonates with thyroid abnormalities in CDG.
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