نتایج جستجو برای: infantile pompe disease
تعداد نتایج: 1498901 فیلتر نتایج به سال:
Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age
BACKGROUND Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occur anytime from early childhood to late adulthood. Enzyme replacement therapy (ERT) with recombinant human GAA is currently available for Pompe pat...
how to cite this article: mohammadi m. electrodiagnostic studies, “role in the diagnosis and follow-up in children with pompe disease”. iran j child neurol autumn 2012; 6:4 (suppl. 1):23. pls see pdf.
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid -glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe d...
BACKGROUND Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. METHODS An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagno...
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid alpha-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacem...
BACKGROUND/AIMS Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease. CA...
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