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Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Aerobic and Resistance Exercise in Late-Onset Pompe Disease Treated with Enzymatic Replacement Therapy: a Systematic Review
(2016)
Purpose: to systematically review the current evidence on the effects of aerobic and resistance exercise in lateonset Pompe disease patients treated with enzymatic replacement therapy.
Methods: a systematic search of the ...
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 ...
Enfermedad de Pompe : descripción de las características clínicas y de laboratorio de una familia colombianaPompe disease : clinical presentation in a colombian family
(Asociación Colombiana de NeurologíaGrupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - PediacienciasBogotá, Colombia, 2021)
Relato do primeiro paciente brasileiro com a forma infantil da doença de Pompe tratado com alfa-glicosidase recombinante humana
(Sociedade Brasileira de Pediatria, 2008)
Objetivo: Relatar o primeiro caso de forma infantil da doença de Pompe tratado no Brasil. Descrição: Trata-se de doença de depósito lisossomal que se caracteriza por defeitos da enzima alfa-glicosidase ácida, com acúmulo ...
Pompe disease diagnosis and management guideline
(Lippincott Williams & Wilkins, 2006-05-01)
ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines ...
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 ...
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 ...