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Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
(Dr Dietrich Steinkopff Verlag, 2009-11-01)
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. A ...
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
(Springer International, 2014)
Revisão sistemática das escalas utilizadas para avaliação funcional na doença de Pompe
(Sociedade de Pediatria de São Paulo, 2012-06-01)
OBJECTIVE: To identify functional assessment scales used in Pompe disease (PD) and to describe their levels of evidence and grades of recommendation. DATA SOURCE: Systematic review of the functional assessment scales used ...
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 ...
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
(BMC, 2020)
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 ...
Efectividad de la glucosa Tetrasacarido (glc4) como Biomarcador de apoyo diagnóstico de la Enfermedad de Pompe. Revisión sistemática de la literatura
Objectives: To analyze the effectiveness of Glc4 as a diagnostic support biomarker for Pompe disease. Introduction: Pompe disease is a neuromuscular disorder, progressive and frequently fatal, caused by the mutation in the ...
Glicogenose hereditária em bovinos Brahman no BrasilInherited glycogenosis in Brahman cattle in Brazil
(Revista Pesquisa Veterinaria Brasileira, 2005-12)
An inherited disease of cattle, characterized by lysosomal storage of glycogen in several tissues, is reported. The disease was diagnosed in a Brahman herd in the municipality of Porto Lucena, Rio Grande do Sul, Brazil. ...