| pubmed-article:20350966 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0026848 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0240339 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0020792 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C2347026 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0370003 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0015278 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0017921 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0220908 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C1414899 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:20350966 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:20350966 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:20350966 | pubmed:dateCreated | 2010-7-15 | lld:pubmed |
| pubmed-article:20350966 | pubmed:abstractText | Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid alpha-glucosidase gene. Late-onset GSD2 resembles some limb-girdle and Becker muscular dystrophies. The screening of GSD2 through the measurement of acid alpha-glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. Only 1 male patient showed a low level of acid alpha-glucosidase activity and a compound heterozygote genotype for the c.-32-13T>G splicing mutation present in most white late-onset Pompe disease cases and the novel mutation p.C558S. To our knowledge, this is the first report of a Mexican patient with late-onset GSD2. The identification of c.-32-13T>G in our patient could reflect the genetic contribution of European ancestry to the Mexican population. The enzymatic screening of GSD2 could be justified in patients with myopathies of unknown etiology. | lld:pubmed |
| pubmed-article:20350966 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20350966 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20350966 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20350966 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20350966 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20350966 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20350966 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:20350966 | pubmed:issn | 1708-8283 | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:González-del... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:Alcántara-Ort... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:Barrientos-Rí... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:CupplesCourtn... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:Garrido-Garcí... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:de... | lld:pubmed |
| pubmed-article:20350966 | pubmed:author | pubmed-author:Alva-ChaireAd... | lld:pubmed |
| pubmed-article:20350966 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20350966 | pubmed:volume | 25 | lld:pubmed |
| pubmed-article:20350966 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20350966 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20350966 | pubmed:pagination | 1034-7 | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:meshHeading | pubmed-meshheading:20350966... | lld:pubmed |
| pubmed-article:20350966 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20350966 | pubmed:articleTitle | Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene. | lld:pubmed |
| pubmed-article:20350966 | pubmed:affiliation | Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, México. malcantaraortigoza@gmail.com | lld:pubmed |
| pubmed-article:20350966 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20350966 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:2548 | entrezgene:pubmed | pubmed-article:20350966 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20350966 | lld:entrezgene |
