Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

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-Kozicz

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)681-683
Number of pages3
JournalMolecular Genetics and Metabolism
Volume105
Issue number4
DOIs
StatePublished - Apr 1 2012
Externally publishedYes

Fingerprint

Glycosylation
Thyroid Gland
Congenital Disorders of Glycosylation
Thyroid Function Tests
Thyroid Hormones
Glycoproteins
Biomarkers
Newborn Infant
Therapeutics

Keywords

  • Free T4
  • Glycosylation
  • Hypothyroidism
  • Levothyroxine treatment
  • PMM2-CDG
  • TSH

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Mohamed, M., Theodore, M., Der Grinten, H. C. V., Van Herwaarden, A. E., Huijben, K., Van Dongen, L., ... Morava-Kozicz, E. (2012). Thyroid function in PMM2-CDG: Diagnostic approach and proposed management. Molecular Genetics and Metabolism, 105(4), 681-683. https://doi.org/10.1016/j.ymgme.2012.02.001

Thyroid function in PMM2-CDG : Diagnostic approach and proposed management. / Mohamed, Miski; Theodore, Miranda; Der Grinten, Hedi Claahsen van; Van Herwaarden, Antonius E.; Huijben, Karin; Van Dongen, Lotte; Kouwenberg, Dorus; Lefeber, Dirk J.; Wevers, Ron A.; Morava-Kozicz, Eva.

In: Molecular Genetics and Metabolism, Vol. 105, No. 4, 01.04.2012, p. 681-683.

Research output: Contribution to journalArticle

Mohamed, M, Theodore, M, Der Grinten, HCV, Van Herwaarden, AE, Huijben, K, Van Dongen, L, Kouwenberg, D, Lefeber, DJ, Wevers, RA & Morava-Kozicz, E 2012, 'Thyroid function in PMM2-CDG: Diagnostic approach and proposed management', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 681-683. https://doi.org/10.1016/j.ymgme.2012.02.001
Mohamed M, Theodore M, Der Grinten HCV, Van Herwaarden AE, Huijben K, Van Dongen L et al. Thyroid function in PMM2-CDG: Diagnostic approach and proposed management. Molecular Genetics and Metabolism. 2012 Apr 1;105(4):681-683. https://doi.org/10.1016/j.ymgme.2012.02.001
Mohamed, Miski ; Theodore, Miranda ; Der Grinten, Hedi Claahsen van ; Van Herwaarden, Antonius E. ; Huijben, Karin ; Van Dongen, Lotte ; Kouwenberg, Dorus ; Lefeber, Dirk J. ; Wevers, Ron A. ; Morava-Kozicz, Eva. / Thyroid function in PMM2-CDG : Diagnostic approach and proposed management. In: Molecular Genetics and Metabolism. 2012 ; Vol. 105, No. 4. pp. 681-683.
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