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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. ...
Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
(Springer, 2019-08)
Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in ...
Generalized glycogenosis in Brahman-derived breeds: diagnosis and prevalence in Argentina
(Springer, 2019-08)
Generalized glycogenosis is a lethal autosomal recessive disease caused by a deficient activity of the acidic 1,4-α-glucosidase enzyme and characterized by an accumulation of glycogen within lysosomes. Three mutations in ...
Argentine consensus on late-onset Pompe's disease
(Fundación Revista Medicina, 2018-07)
Pompe´s disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered ...