Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

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Title:	Thyroid function in PMM2-CDG: diagnostic approach and proposed management.
Author(s):	Mohamed, M.; Theodore, M.; Claahsen-van der Grinten, H.L. ; Herwaarden, A.E. van ; Huijben, K.; Dongen, L. van; Kouwenberg, D.; Lefeber, D.J. ; Wevers, R.A. ; Morava, E.
Publication year:	2012
Source:	Molecular Genetics and Metabolism, vol. 105, iss. 4, (2012), pp. 681-683
ISSN:	1096-7192
DOI:	https://doi.org/10.1016/j.ymgme.2012.02.001
Annotation:	1 april 2012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/109984
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Subject:	DCN NN - Brain networks and neuronal communication DCN PAC - Perception action and control IGMD 4: Glycostation disorders IGMD 6: Hormonal regulation
Organization:	Laboratory of Genetic, Endocrine and Metabolic Diseases Paediatrics Laboratory of Clinical Chemistry Neurology
Journal title:	Molecular Genetics and Metabolism
Volume:	vol. 105
Issue:	iss. 4
Page start:	p. 681
Page end:	p. 683
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.