http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_head http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_provenance http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://identifiers.org/ncbigene/1962 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1969443 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNd75ee297323b9a4113c43af5d39bacbf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1962 http://rdf.disgenet.org/resource/gda/DGNd75ee297323b9a4113c43af5d39bacbf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1969443 http://rdf.disgenet.org/resource/gda/DGNd75ee297323b9a4113c43af5d39bacbf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_provenance http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://purl.org/dc/terms/description [Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (e.g., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondrial disorders) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps), e.g., phosphorylase, phosphofructokinase, and phosphoglycerate kinase among the glycogenoses and carnitine palmitoyltransferase II deficiency among the disorders of FAO or (3) both (e.g., long-chain or very long-chain acyl coenzyme A (CoA) dehydrogenase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and trifunctional protein deficiencies among the FAO defects).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10331465 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/dc/terms/created 2016-05-13T12:43:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP252863.RAuzsqiaZk_ZBije66vZOG7v0VlCoCBehkVVaMw_8sqd0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0