Article
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
Heart failure reviews - 1 Mar 2013
Kapusta Livia, Zucker Nili, Frenckel George, Medalion Benjamin, Ben Gal Tuvia, Birk Einat, Mandel Hanna, Nasser Nadim, Morgenstern Sarah, Zuckermann Andreas, Lefeber Dirk J, de Brouwer Arjen, Wevers Ron A, Lorber Avraham, Morava Eva
Abstract excerpt
Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, usually with a lethal outcome. We report on cardiac pathology in nine patients from three unrelated Israeli families,...
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