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Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010-04-01)
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 ...
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease
(Academia Brasileira de Neurologia - ABNEURO, 2010)
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 ...
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 ...
Disease Pompe: report of caseEnfermedad de Pompe: reporte de caso
(Enfermedad de Pompe: reporte de caso. Nova, 2016-06-01)
Objective. It is a case of a seven months male patient, evaluated by cardiology fifteen days after he was born secondary, to sudden cardiac death of his sister of four months, nothing ...
Resposta ao uso da terapia de reposi????o enzim??tica na doen??a de pompe: uma revis??o sistem??tica com metan??lises
(Instituto de Ci??ncias da Sa??de, Universidade Federal da Bahia.Programa de P??s-Gradua????o em Processos Interativos dos ??rg??os e Sistemas.UFBAbrasil, 2016-10-25)
Enfermedad de Pompe
La enfermedad de Pompe forma parte de las enfermedades relacionadas con alteraciones en el depósito o el metabolismo
del glucógeno. También conocida como deficiencia de maltasa ácida, enfermedad de depósito de glucógeno ...
O valor diagnóstico da caracterização vacuolar em biópsia muscular na Doença de Pompe
(Universidade Federal de São Paulo, 2021-09)
Objetivos: Depois de confirmada a doença de Pompe, avaliar as características morfológicas dos achados histológicos nas biópsias desses pacientes e examinar a possibilidade de diagnosticar ou excluir o diagnóstico da doença ...
Characterization of chaotic maps using the permutation Bandt-Pompe probability distribution
(Springer Verlag Berlín, 2013-04)
By appealing to a long list of different nonlinear maps we review the characterization of time series arising from chaotic maps. The main tool for this characterization is the permutation Bandt-Pompe probability distribution ...