| http://purl.uniprot.org/citations/20020533 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20020533 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20020533 | http://www.w3.org/2000/01/rdf-schema#comment | "We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene, which encodes D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). Enzyme assay of D-2-HGDH confirmed that all patients with mutations had impaired enzyme activity, whereas patients with D-2-HGA whose enzyme activity was normal did not have mutations. Significantly lower D-2-HG concentrations in body fluids were observed in mutation-positive D-2-HGA patients than in mutation-negative patients. These results imply that multiple genetic loci may be associated with hyperexcretion of D-2-HG. Accordingly, we suggest a new classification: D-2-HGA Type I associates with D-2-HGDH deficiency, whereas idiopathic D-2-HGA manifests with normal D-2-HGDH activity and higher D-2-HG levels in body fluids compared with Type I patients. It remains possible that several classifications for idiopathic D-2-HGA patients with diverse genetic loci will be revealed in future studies."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21186"xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21186"xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Salomons G.S."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Salomons G.S."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Christensen E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Christensen E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Webster R."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Webster R."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Gibson K.M."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Gibson K.M."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Maranda B."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Maranda B."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Abdenur J.E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Abdenur J.E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Hobson E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Hobson E."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Korman S.H."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Korman S.H."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Sansaricq C."xsd:string |
| http://purl.uniprot.org/citations/20020533 | http://purl.uniprot.org/core/author | "Sansaricq C."xsd:string |