نتایج جستجو برای: infantile pompe disease
تعداد نتایج: 1498901 فیلتر نتایج به سال:
Pompe disease (PD) is a rare metabolic myopathy. It is caused by the deficiency of the lysosomal enzyme acid alpha glucosidase (GAA), with a consequent generalized storage of glycogen, particularly in the heart, skeletal muscle and liver. It has been reported an overall incidence of 1 in 40.000 live birth, with a different frequency in different races. The infantile form has an incidence of 1 i...
A 5-month-old male infant born to consanguinious marriage with past history of feeding difficulties in the form of suck-rest-suck cycle, forehead diaphoresis, and poor weight gain since early infancy presented with increasing severity of respiratory distress and apathy of 2 weeks duration. Physical examination revealed tachypnea, tachycardia, severe respiratory distress with chest wall retracti...
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...
BACKGROUND Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury. METHODS AND RESULTS In 122 patients with Pompe disease, the relationship between cTnT, cardiac troponin I, creatine kinase (CK), CK-myocardial band levels, and skeletal muscle damage was assessed. ECG an...
Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is character...
BACKGROUND Pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. The infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. Bone min...
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...
Introduction Pompe disease is a rare, metabolic, multi-system, lysosomal storage disorder with autosomal recessive inheritance, caused by a deficiency of the glycogen-degrading lysosomal enzyme, acid alpha-glucosidase (GAA). Great phenotypic variability has led to the classification of several subtypes: infantile, late-infantile, childhood, juvenile, and adult-onset form, based on the age of on...
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