نتایج جستجو برای: infantile pompe disease
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Pompe disease is a lysosomal storage disease characterized by massive glycogen deposition in skeletal, cardiac and smooth muscle secondary to the deficiency of acid α-glucosidase (GAA) [1]. Once rapidly fatal, it has become a treatable condition since the development of enzyme replacement therapy (ERT) with alglucosidase α (recombinant human GAA [rhGAA], Myozyme/Lumizyme Genzyme Corp. Cambridge...
Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantileonset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement th...
BACKGROUND Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of acid alpha-glucosidase (GAA, acid maltase, EC 3.2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness of skeletal muscle throughout the clinic...
Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and c...
Approximately 35-40% of patients with classic infantile Pompe disease treated with enzyme replacement therapy (ERT) develop high, sustained antibody titers against the therapeutic enzyme alglucosidase alfa, which abrogates the treatment efficacy. Induction of antigen-specific immune tolerance would greatly enhance ERT for these patients. Here we show that a short-course treatment with non-deple...
BACKGROUND Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood. CASE REPORT We present a case of infa...
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...
Pompe disease (glycogen storage disease type II) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Enzyme replacement therapy (ERT) with alglucosidase alfa has resulted in a clinical benefit in a subset of patients. Crossreactive Immunological Material (CRIM)-negative status is associated with poor prognosis. Patients with CRIM-neg...
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