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Thyroid function in PMM2-CDG: diagnostic approach and proposed management.
Mohamed, Miski; Theodore, Miranda; Claahsen-van der Grinten, Hedi; van Herwaarden, Antonius E; Huijben, Karin; van Dongen, Lotte; Kouwenberg, Dorus; Lefeber, Dirk J; Wevers, Ron A; Morava, Eva.
Mol Genet Metab ; 105(4): 681-3, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22386715

ABSTRACT

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.


Subject(s)
Congenital Disorders of Glycosylation/diagnosis , Congenital Disorders of Glycosylation/therapy , Neuraminidase/pharmacology , Phosphotransferases (Phosphomutases)/metabolism , Adolescent , Adult , Child , Child, Preschool , Congenital Disorders of Glycosylation/enzymology , Female , Follow-Up Studies , Glycosylation , Humans , Infant , Infant, Newborn , Longitudinal Studies , Male , Retrospective Studies , Thyroid Function Tests , Thyrotropin/metabolism , Young Adult
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