Article
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
Molecular genetics and metabolism - 1 Aug 2024
Zemet Roni, Hope Kyle D, Edmondson Andrew C, Shah Rameen, Patino Maria, Yesso Abigail M, Berger Justin H, Sarafoglou Kyriakie, Larson Austin, Lam Christina, Morava Eva, Scaglia Fernando
Abstract excerpt
INTRODUCTION: Congenital disorders of glycosylation (CDG) are a continuously expanding group of monogenic disorders that disrupt glycoprotein and glycolipid biosynthesis, leading to multi-systemic manifestations. These disorders are categorized into various groups depending on which part of the glycosylation process is impaired. The cardiac manifestations in CDG can significantly differ, not only across different...
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