Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...

Purpose: to systematically review the current evidence on the effects of aerobic and resistance exercise in lateonset Pompe disease patients treated with enzymatic replacement therapy. Methods: a systematic search of the ...

Through this study we aim to demonstrate the importance of the evaluation of pompe disease as a differential diagnosis of motor neuron disease. Here we present two cases in which the initial approach was of a motor neuron ...

We report 4 cases of late onset glycogen storage disease type II (GSD II) or Pompe disease (OMIM #232300), under. enzyme replacement therapy (ERT) with recombinant human acid alpha glucosidase (rh-GM, OMIM *606800). in ...

Objetivo: Relatar o primeiro caso de forma infantil da doença de Pompe tratado no Brasil. Descrição: Trata-se de doença de depósito lisossomal que se caracteriza por defeitos da enzima alfa-glicosidase ácida, com acúmulo ...

Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving ...

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of ...

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the ...