Buscar
Mostrando ítems 1-10 de 34
Mcardle disease: New insights into its underlying molecular mechanisms
(Molecular Diversity Preservation International, 2019-12)
McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate PYGM 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 ...
Glycogen storage disease type Ia: molecular study in Brazilian patients
(Springer-verlag TokyoTokyoJapão, 2001)
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
(Soc Brasil GeneticaRibeirao PretBrasil, 2013)
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
(BIOMED CENTRAL LTD, 2010)
Background: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and ...
Glycogen storage diseases, Type I GlucogenosisEnfermedades de almacenamiento de glucógeno. Glucogenosis tipo I
(Editorial Ciencia digital Registrada en la Cámara Ecuatoriana del Libro No Afiliación 663 (Editor DrC. Efraín Velasteguí López. PhD.), 2024)
A novel mutation in a Brazilian patient with glycogen storage disease type 1a
(Kluwer Academic PublDordrechtHolanda, 1998)
Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecularMolecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease
(Instituto Nacional de SaludGrupo de GastrohepatologíaInmunodeficiencias PrimariasBogotá, Colombia, 2022)
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 ...