The Pompe Registry: 10 Years of Data.
نویسندگان
چکیده
s S23
منابع مشابه
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Pompe disease is a rare autosomal recessive muscle lysosomal glycogenosis, characterised by limb-girdle muscle weakness and frequent respiratory involvement. The French Pompe registry was created in 2004 with the initial aim of studying the natural history of French patients with adult Pompe disease. Since the marketing in 2006 of enzyme replacement therapy (alglucosidase alfa, Myozyme(®)), the...
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s S37 patients at the time of their fi rst infusion has decreased from 53 years in group 1 to 50 years in group 2.
متن کاملPompe disease: design, methodology, and early findings from the Pompe Registry.
Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, sympto...
متن کاملLate-onset Pompe Disease with Elevated Liver Transaminases: A Case Report
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
متن کاملThe Search for Pompe Patients in Canada: Assessing Feasibility of a National Disease Registry to Facilitate Research.
s S46 patients will be captured. More investigation into the willingness of these clinics to participate in the CNDR is required. Some evidence exists that incorporation of Pompe disease into the registry might help to facilitate improved relationships between the genetic, metabolic, and specialty neuromuscular clinics across Canada, which may have important impacts beyond the Pompe disease aud...
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ورودعنوان ژورنال:
- Journal of neuromuscular diseases
دوره 2 s1 شماره
صفحات -
تاریخ انتشار 2015