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Article

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

American journal of medical genetics. Part A - 1 Mar 2013

Funke Simone, Gardeitchik Thatjana, Kouwenberg Dorus, Mohamed Miski, Wortmann Saskia B, Korsch Eckhard, Adamowicz Maciej, Al-Gazali Lihadh, Wevers Ron A, Horvath Adrienne, Lefeber Dirk J, Morava Eva

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG-I, or CDG-II. The diagnosis of CDG is...

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Identifiers

PMID: 23401092
DOI: 10.1002/ajmg.a.35702

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