| http://purl.uniprot.org/citations/20350966 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20350966 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20350966 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073809356035"xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073809356035"xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Alcantara-Ortigoza M.A."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Alcantara-Ortigoza M.A."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Gonzalez-del Angel A."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Gonzalez-del Angel A."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Alva-Chaire Adel C."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Alva-Chaire Adel C."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Barrientos-Rios R."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Barrientos-Rios R."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Cupples C."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Cupples C."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Garrido-Garcia L.M."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "Garrido-Garcia L.M."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "de Leon-Bojorge B."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/author | "de Leon-Bojorge B."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/name | "J. Child Neurol."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/name | "J. Child Neurol."xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/pages | "1034-1037"xsd:string |
| http://purl.uniprot.org/citations/20350966 | http://purl.uniprot.org/core/pages | "1034-1037"xsd:string |