http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_head http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://identifiers.org/ncbigene/2108 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/C0270984 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/DGN231ff3285b18723a54748aee84eec178 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2108 http://rdf.disgenet.org/resource/gda/DGN231ff3285b18723a54748aee84eec178 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270984 http://rdf.disgenet.org/resource/gda/DGN231ff3285b18723a54748aee84eec178 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://purl.org/dc/terms/description [This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of other metabolic myopathies will be briefly reviewed, including glycogenosis type V (McArdle disease), glycogenosis type III (debrancher enzyme deficiency or Cori disease), CPT-II deficiency, and ETF-dehydrogenase deficiency (also known as riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency or RR-MADD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_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/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24997454 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_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/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/dc/terms/created 2016-05-13T12:50:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1198846.RAfIhzvr7WuZciwgGRuv6DrYu-inJfh9ZSszJiGfmtIQE 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