نتایج جستجو برای: pompe
تعداد نتایج: 1229 فیلتر نتایج به سال:
BACKGROUND Prior autopsy reports demonstrate glycogen deposition in Schwann cells of the peripheral nerves in patients with infantile and late-onset Pompe disease (LOPD), but little is known about associated clinical features. CASE REPORT Here, we report the first confirmed cases of small-fiber neuropathy (SFN) in LOPD and present the results of a first attempt at screening for SFN in this pa...
Myocarditis attributed to Epstein-Barr virus (EBV) as the sole cause is a rare manifestation. Myocarditis ascribed to EBV infection in combination with other factors has been reported in a few more cases. We report a child who experienced active EBV infection and later, at 19 months of age, received a diagnosis of Pompe disease (acid alpha-glucosidase deficiency) with predominant cardiac involv...
Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare autosomial recessive disease due to deficiency of lysosomal acid alpha-glucosidase (GAA). The infantile-onset form is the most severe, and most patients present with hypotonia and cardiomyopathy in early infancy. We report on a typical case of Pompe disease in a patient who died at 8 months of age due to aspiratio...
Introduction Glycogen storage disease, glycogenosis type II (GSDII), or Pompe disease (OMIM 23230), is an autosomal recessive lysosomal storage disorder that results from a deficiency in the acid alpha glucosidase (GAA) enzyme. The disease is characterized by progressive accumulation of lysosomal glycogen in various tissues, primarily in cardiac and skeletal muscles. The histopathological hallm...
Introduction Pompe disease (OMIM #232300) or glycogen storage disease type II is an autosomal recessive lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene. The acid alpha-glucosidase enzyme is required for the degradation of cellular glycogen, and its reduced activity results in accumulation of glycogen in muscle and cardiac tissues with variable clinical pre...
INTRODUCTION Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy and respiratory failure develop. The onset may be at the infantile, adolescent or adult period dep...
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombi...
OBJECTIVES Determining the cost-effectiveness of enzyme replacement therapy (ERT) for the classical infantile form of Pompe disease (complete acid a-glucosidase deficiency-related) in two different settings: England and Colombia. Pompe disease is very rare (1:40,000 births incidence). METHODS A literature review was made and historic databases searched for National Health Service (NHS) reimbu...
OBJECTIVE Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy (ERT) significantly increases survival, its potential limitation is that the drug cannot cross the blood-brain barrier. We therefore investigated long-term cognitive development in patients treated with ERT. METHODS We prospect...
Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without cardiomyopathy. The objective of our review was to systematically evaluate the quality of evidence from the literature to formulate evidence-based guidelines for the diagnosis and management of patients with Pompe disea...
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