http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#head
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://rdf.disgenet.org/resource/gda/DGN3640c07d344934e788462d2c6de78967
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2548
http://rdf.disgenet.org/resource/gda/DGN3640c07d344934e788462d2c6de78967
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0017921
http://rdf.disgenet.org/resource/gda/DGN3640c07d344934e788462d2c6de78967
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21963784
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/dc/terms/created
2017-10-17T13:12:53+02:00
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424327.RABSrL1o46eMXkgBWMFYdB6x7XaX9P1d5nqMn5Ci-y2wQ
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0