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Genetic defects in the liver phosphorylase system in Argentine patients nosological definition through a strategy of enzimatic and molecular analysis
(Universidad Nacional de Córdoba. Facultad de Ciencias Médicas., 2013)
The phosphorylase and phosphorylase-b kinase (PHK) deficiencies in the liver constitute the phosphorylase system defects (PSD), leading to Glycogenosis Type VI (GSD-VI) and Type IX (GSD-IX), respectively. The hepatic ...
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. ...
Acid hydrolysis of urinary oligosaccharides in type I glycogenosis [Hidrólisis ácida de oligosacáridos urinarios en glucogenosis tipo I.]
(1990)
Oligosaccharides were isolated by thin layer chromatography from the urine of a patient diagnosed upon clinical and laboratory characteristics as glycogenosis Ia. The oligosaccharides were hydrolyzed with H2SO2 0.5 M at ...
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 ...
Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle
(2018-11-01)
Glycogen storage disease type II (GSD-II) and congenital myasthenic syndrome (CMS) are important autosomal recessive disorders in Brahman cattle. The objective of this study was to investigate the presence of mutations ...
Diagnóstico, manifestaciones clínicas y aspectos bioquímicos que fundamentan el tratamiento nutricional de las glucogenosis que afectan el hígadoDiagnosis, clinical signs and biochemical aspects that base the nutritional treatment of the glucogenosis that affect the liver
(Universidad de Antioquia, Escuela de Nutrición y DietéticaAlimentación y Nutrición HumanaMedellín, Colombia, 2021)
Acid hydrolysis of urinary oligosaccharides in type I glycogenosis [Hidr�lisis �cida de oligosac�ridos urinarios en glucogenosis tipo I.]
(1990)
Oligosaccharides were isolated by thin layer chromatography from the urine of a patient diagnosed upon clinical and laboratory characteristics as glycogenosis Ia. The oligosaccharides were hydrolyzed with H2SO2 0.5 M at ...