|1.||Arenas, J: 8 articles (09/2007 - 01/2000)|
|2.||Andreu, Antoni L: 6 articles (07/2015 - 09/2003)|
|3.||Rubio, J C: 6 articles (09/2007 - 01/2000)|
|4.||Martín, M A: 6 articles (11/2003 - 01/2000)|
|5.||Lucia, Alejandro: 5 articles (07/2015 - 02/2007)|
|6.||Nogales-Gadea, Gisela: 5 articles (07/2015 - 02/2007)|
|7.||Martín, Miguel A: 4 articles (07/2015 - 09/2003)|
|8.||Andreu, A L: 4 articles (09/2007 - 02/2000)|
|9.||Cabello, A: 4 articles (08/2000 - 01/2000)|
|10.||Campos, Y: 4 articles (08/2000 - 01/2000)|
|1.||Glycogen Storage Disease Type V (McArdle's Disease)
06/01/2009 - "These findings identify the first distinct genotype-phenotype relationship in McArdle disease, and indicate that minimal myophosphorylase activity ameliorates the typical McArdle disease phenotype by augmenting muscle oxidative capacity. "
06/01/2009 - "Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease."
11/01/2015 - "We found that a novel c.1151C>T transition in exon 10 of the myophosphorylase gene (PYGM) is associated with minimally symptomatic McArdle disease. "
12/01/2014 - "Our findings suggest that analysis of myophosphorylase expression in white blood cells might be a useful, less-invasive, complementary test for diagnosing McArdle disease. "
12/01/2014 - "Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase activity in skeletal muscle biopsies and genetic analysis of the myophosphorylase-encoding gene, PYGM. "
05/01/1980 - "The diagnosis was indicated by the ischemic forearm test, which produced muscle contracture and no rise in venous lactate levels, and confirmed by histochemical, electrophoretic, and biochemical studies that showed complete absence of myophosphorylase. "
12/01/2014 - "McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. "
|3.||Myositis (Idiopathic Inflammatory Myopathies)
|4.||Glycogen Storage Disease (Glycogenosis)
07/01/2012 - "McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. "
12/01/2011 - "McArdle disease is an autosomal recessive glycogenosis due to deficiency of the enzyme myophosphorylase. "
06/01/2011 - "McArdle disease, also known as type V glycogen storage disease, is an autosomal recessive inherited condition caused by a missing or nonfunctioning enzyme called myophosphorylase C. "
07/01/2004 - "To investigate the genetic effect of a new mutation found in exon 17 of the myophosphorylase (PYGM) gene as a cause of McArdle disease (also known as type 5 glycogenosis). "
01/01/1981 - "Five patients, two of them siblings, were deficient in myophosphorylase (glycogenosis type V, McArdle's disease). "
|5.||Muscular Diseases (Myopathy)
01/01/2012 - "McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. "
08/01/2011 - "Mutations of PYGM, the gene encoding human myophosphorylase, produce a metabolic myopathy characterised by exercise intolerance and, in some patients, myoglobinuria. "
01/01/2010 - "McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern. "
06/01/2007 - "McArdle disease, a common metabolic myopathy with autosomal recessive inheritance, is caused by a frequent R50X mutation and many rare mutations in the myophosphorylase gene. "
02/01/2007 - "McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. "
|3.||AMP Deaminase (Myoadenylate Deaminase)
|5.||Glycogen Phosphorylase (Phosphorylase, Glycogen)
|6.||DNA (Deoxyribonucleic Acid)
|7.||Creatine Kinase (Creatine Phosphokinase)
|8.||Nonsense Codon (Nonsense Mutation)
|9.||Complementary DNA (cDNA)
|10.||alpha-Glucosidases (Acid Maltase)
|1.||Cesarean Section (Caesarean Section)