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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)
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 ...
Enfermedad de Von Gierke: nuevas tendencias en el manejo
(Universidad Militar Nueva Granada, 2012)
Enfermedad de Von Gierke: nuevas tendencias en el manejo
(Universidad Militar Nueva Granada, 2012)
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 ...
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)
Modificación del almidón de maíz y sus efectos en el tratamiento de niños con glucogenosisModification of starch corn and its effects on the treatment of children with glycogenosis
(Universidad del Valle. Grupo de Investigación en Gastroenterología, Hepatología y Nutrición Pediátrica. GASTROHNUPGrupo de GastrohepatologíaCali, Colombia, 2022)
Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation
(2011-01)
BACKGROUND The ECG, clinical, and electrophysiologic profiles
of patients with a fasciculoventricular pathway are well described.
Fasciculoventricular pathways occurring in the setting of glycogen
storage cardiomyopathy ...
Revisão sistemática das escalas utilizadas para avaliação funcional na doença de PompeSystematic review of functional assessment scales in Pompe diseaseRevisión sistemática de las escalas utilizadas para evaluación funcional en la enfermedad de Pompe
(Sociedade de Pediatria de São Paulo, 2012)
OBJETIVO: Identificar as escalas utilizadas para avaliação funcional na doença de Pompe (DP) e descrever seu nível de evidência e recomendação. FONTES DE DADOS: Revisão sistemática sobre as escalas de avaliação funcional ...
Pathological findings of post-anesthetic myopathy associated with type 1 polysaccharide storage myopathy in a percheron horse
(2018-01-01)
Background: Post-anesthetic myopathy is the most common complication associated with general anesthesia in horses. Polysaccharide storage myopathy (PSSM) is characterized by an abnormal accumulation of glycogen and ...