| Thyroid function in PMM2-CDG: Diagnostic approach and proposed management. | |
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MedLine Citation:
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PMID: 22386715 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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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Authors:
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Miski Mohamed; Miranda Theodore; Hedi Claahsen-van der Grinten; Antonius E van Herwaarden; Karin Huijben; Lotte van Dongen; Dorus Kouwenberg; Dirk J Lefeber; Ron A Wevers; Eva Morava |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-2-13 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: - ISSN: 1096-7206 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-3-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012. Published by Elsevier Inc. |
Affiliation:
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Department of Pediatrics, Radboud University Nijmegen Medical Center, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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