Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1262-1
Reference30 articles.
1. Agarwal B, Ahmed A, Rushing E et al (2007) Congenital disorders of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features. Hum Pathol 38:1714–1719
2. Arnox JB, Boddaert N, Valayannopoulos V et al (2008) Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 93:444–449
3. Aronica E, van Kempen AAMW, van der Heide M et al (2005) Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109:433–442
4. Chantret I, Dupre T, Delenda C et al (2002) Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNA2-PP-dolichyl mannosyltransferase. J Biol Chem 277(28):25815–25822
5. Clayton PT, Grunewald S (2009) Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In). J Inherit Metab Dis 2009 March 11 [Epub ahead of print]
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