Search for: [Abstract = "d with PMM2\-CDG for 12 months. In vitro measurements included PMM enzyme measurements, immunoblotting and reverse transcription quantitative polymerase chain reaction \(RT\-qPCR\) in PMM2\-deficient fibroblasts. Additionally, proteomics and glycoproteomics were used for the first time to confirm the effectiveness of CDG treatment. Disease severity was assessed using the Nijmegen Progression CDG Rating Scale \(NPCRS\) tool. The NPCRS was completed based on a physical exam, laboratory testing and medical interview process. First, we describe our findings with a new, repurposed drug, epalrestat, which improves PMM enzyme activity, N\-glycosylation and glycosylation biomarkers in vitro. We also trialed epalrestat in a single patient trial and found the drug well\-tolerated and leading to significant clinical improvements in a pediatric PMM2\-CDG patient. Second, we detected elevated sorbitol in urine and also proposed urinary sorbitol as a novel biomarker for disease severity and treatment response in future clinical trials in PMM2\-CDG. Identifying patients with increased risk for thrombotic events could prevent serious complications and even mortality. Thus, we evaluated antithrombin 3 activity \(ATIII\) and factor XI \(FXI\) activity as potential biomarkers for PMM2\-CDG based on the data of the natural history project for CDG. Although coagulation parameters improved with age and time, abnor"]

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