Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consa...

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Hlavní autoři: Millón, M. B. Bistué, Delgado, M. A., Azar, N. B., Guelbert, N., Sturiale, L., Garozzo, D., Matthijs, G., Jaeken, J., de Kremer, Raquel Dodelson, Asteggiano, C. G.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509812/
https://ncbi.nlm.nih.gov/pubmed/23430830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_18
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