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Enfermedad de Pompe como diagnóstico diferencial de enfermedad de motoneurona: reporte de casos y revisión de la literatura
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 ...
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
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 ...
Enfermedad de Pompe
(2021)
Aerobic and Resistance Exercise in Late-Onset Pompe Disease Treated with Enzymatic Replacement Therapy: a Systematic Review
(2016)
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 ...
The Brazilian Consensus on the Management of Pompe Disease
(MOSBY-ELSEVIER, 2009)
Relato do primeiro paciente brasileiro com a forma infantil da doença de Pompe tratado com alfa-glicosidase recombinante humana
(Sociedade Brasileira de Pediatria, 2008)
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 ...
Enfermedad de Pompe: primer caso de inicio en el adulto descrito en Uruguay confirmado genéticamente
(Sociedad de Medicina Interna del Uruguay, 2015)
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case
(Elsevier B.V., 2010-05-01)
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 ...