Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9299-3
Reference35 articles.
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2. Almeida A, Layton M, Karadimitris A (2009) Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG. Biochim Biophys Acta 1792:874–880
3. Bianchi P, Fermo E, Vercellati C et al (2009) Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 30:1292‐1298
4. Cantagrel V, Lefeber DJ, Ng BG et al (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:1–15
5. De Lonlay P, Seta N (2009) The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta 1792:841–843
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