ALG8-CDG: novel patients and review of the literature-Reference-Cited by-同舟云学术

ALG8-CDG: novel patients and review of the literature

Published:2015-06-12 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Höck Michaela,Wegleiter Karina,Ralser Elisabeth,Kiechl-Kohlendorfer Ursula,Scholl-Bürgi Sabine,Fauth Christine,Steichen Elisabeth,Pichler Karin,Lefeber Dirk J.,Matthjis Gert,Keldermans Liesbeth,Maurer Kathrin,Zschocke Johannes,Karall Daniela

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0289-7.pdf

Reference25 articles.

1. Hennet T, Cabalzar J. Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction. Trends Biochem Sci. 2015. doi:10.1016/j.tibs.2015.03.002 (Epub ahead of print).

2. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, et al. Familial psychomotor retardation with markedly fluctuative serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res. 1980;14:179.

3. Jaeken J. Congenital disorders of glycosylation. Ann NY Acad Sci. 2010;1214:190–8.

4. Freeze HH. Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem. 2013;288:6936–45.

5. Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis. 2011;34:849–52.

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