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

Autor: Eva Morava, Dorus Kouwenberg, Antonius E. van Herwaarden, Karin Huijben, Hedi Claahsen van der Grinten, Ron A. Wevers, Lotte Van Dongen, Miski Mohamed, Miranda Theodore, Dirk Lefeber
Rok vydání: 2012
Předmět:
Male
Glycosylation
endocrine system diseases
Endocrinology
Diabetes and Metabolism
Thyrotropin
Thyroid Function Tests
Bioinformatics
Biochemistry
chemistry.chemical_compound
Endocrinology
Congenital Disorders of Glycosylation
Longitudinal Studies
Child
chemistry.chemical_classification
Potential impact
Phosphotransferases (Phosphomutases)
Child
Preschool
Female
lipids (amino acids
peptides
and proteins)
Thyroid function
Adult
medicine.medical_specialty
congenital
hereditary
and neonatal diseases and abnormalities
endocrine system
Adolescent
Neuraminidase
Therapeutic approach
Young Adult
Internal medicine
Genetics
medicine
Humans
In patient
Pmm2 cdg
Glycostation disorders [DCN PAC - Perception action and control IGMD 4]
Molecular Biology
DCN NN - Brain networks and neuronal communication
Retrospective Studies
business.industry
Hormonal regulation [IGMD 6]
Infant
Newborn
Infant
Glycostation disorders [IGMD 4]
carbohydrates (lipids)
chemistry
Thyroid hormones
Glycoprotein
business
Follow-Up Studies
Zdroj: Molecular Genetics and Metabolism, 105, 4, pp. 681-3
Molecular Genetics and Metabolism, 105, 681-3
ISSN: 1096-7192
Popis: Item does not contain fulltext 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. 01 april 2012
Databáze: OpenAIRE
Externí odkaz: