Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0959-x
Reference12 articles.
1. Coman D, Irving M, Kannu P, et al (2008) The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet 73: 507–515.
2. Denecke J, Kranz C, Kemming D, et al (2004) An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Hum Mutat 23(5): 477–486. doi: 10.1002/humu.20026 .
3. Denecke J, Kranz C, von Kleist-Retzow JC, et al (2005) Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatr Res 58(2): 248–253. doi: 10.1203/01.PDR.0000169963.94378.B6 .
4. Grünewald S (2007) Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders. Early Hum Dev 83: 825–830. doi: 10.1016/j.earlhumdev.2007.09.016 .
5. Jaeken J, Matthijs G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genom Hum Genet 8: 261–278. doi: 10.1146/annurev.genom.8.080706.092327 .
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