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 language | English (US) |
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Pages (from-to) | 681-683 |
Number of pages | 3 |
Journal | Molecular genetics and metabolism |
Volume | 105 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2012 |
Keywords
- Free T4
- Glycosylation
- Hypothyroidism
- Levothyroxine treatment
- PMM2-CDG
- TSH
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology