Search for: [Abstract = "PMM2\-CDG is a rare metabolic disease with highly variable, broad range of symptoms, and interindividual difference in the severity of presentation. Although PMM2\-CDG was discovered in the 80s, and since then more than 160 CDG types have been discovered, there is no comprehensive patient registry, no prospective data on outcome, the screening test for CDG diagnosis is not reliable and there is no therapy for most CDG types. The Frontiers in Congenital Disorders of Glycosylation Consortium \(FCDGC\) was established to define the natural history of CDG, validate patient\-reported outcomes, develop therapies, and share CDG knowledge across an international network of more than 20 research sites. In this thesis my aims were threefold\: 1\) to develop and validate new biochemical diagnostic techniques and therapeutic biomarkers which can be used in the future for clinical trials, 2\) to restore appropriate glycosylation in Congenital Disorders of Glycosylation to improve clinical symptoms and quality of life of patients and their families and 3\) to better define the natural history, validate patient reported outcomes and share knowledge on Congenital Disorders of Glycosylation. The genetic, laboratory, metabolic, and clinical data of 50 PMM2\-CDG patients enrolled in the FCDGC natural history study were evaluated. Safety and efficacy of 0.8 mg\/kg\/day oral epalrestat were studied in a chil"]

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