Article
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
Molecular genetics and metabolism - 1 Aug 2011
El-Gharbawy Areeg H, Bhat Gifty, Murillo Jaime E, Thurberg Beth L, Kampmann Christoph, Mengel Karl-Eugen, Kishnani Priya S
Abstract excerpt
PURPOSE: Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determine if aortic arteriopathy may be a complication of LOPD. METHODS: One patient with LOPD was diagnosed with aortic dilatation at Duke Metabolic clinic, 4 others...
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