نتایج جستجو برای: pompe disease
تعداد نتایج: 1490290 فیلتر نتایج به سال:
Infantile Pompe disease progresses to a lethal cardiomyopathy in absence of effective treatment. Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was reduced by high-titer antibody responses. Immunomodulatory gene therapy with a low dose adeno-associated virus (AAV) vector (2 x 10(10) part...
clinical spectrum of late-onset Pompe disease (LOPD) have been extensively reviewed, with the identifi cation of a continuum, ranging from severe childhood cases to very late overt manifestations, occurring in the sixth or even seventh decade. Some of these patients may complain of non-specifi c symptoms and signs (hyperCKemia, myalgia, fatigability) for years; therefore they may be misdiagnose...
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...
Adult Pompe disease/acid maltase deficiency is an autosomal recessive disorder resulting in accumulation of glycogen in skeletal muscles, leading to myopathy frequently involving respiratory muscles. This involvement can cause respiratory insufficiency that may present as acute hypercapnic respiratory failure. Enzyme replacement therapy (ERT) with alpha - glucosidase alfa, the only disease-spec...
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...
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...
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