dgn-np:NP16324.RA00mqqRWE-Cdt10mAn2egZep-SCE7NBK_ZcuaQnUrjh8130_provenance {
  dgn-np:NP16324.RA00mqqRWE-Cdt10mAn2egZep-SCE7NBK_ZcuaQnUrjh8130_assertion dcterms:description "[To investigate the feasibility of NBS for Pompe disease in Japan, we obtained dried blood spots (DBSs) from 496 healthy Japanese controls, 29 Japanese patients with Pompe disease, and five obligate carriers, and assayed GAA activity under the following conditions: (1) total GAA measured at pH 3.8, (2) GAA measured at pH 3.8 in the presence of acarbose, and (3) neutral glucosidase activity (NAG) measured at pH 7.0 without acarbose.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:21963784 ;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}