Buscar
Mostrando ítems 1-10 de 76
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 ...
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 ...
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 ...
Glycogen Storage Disease Type I b as a Cause of Hypoglycemia
(Karger, 2016)
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)
Glycogen storage disease type Ia: molecular study in Brazilian patients
(Springer-verlag TokyoTokyoJapão, 2001)
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 ...
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
(BioMed CentralLondon, 2010-01-05)
Abstract
Background
Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia ...
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
(2010-01-05)
Abstract
Background
Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after ...