| http://purl.uniprot.org/citations/18671189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18671189 | http://www.w3.org/2000/01/rdf-schema#comment | "L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. Mutations in the gene L2HGDH ( C14ORF160/DURANIN/) have been identified as causative for L-2-HGA. A feature disproportionally associated with L-2-HGA is the development of malignant brain tumors. In our cohort of 40 patients with L-2-HGA, two developed medulloblastoma and glioblastoma multiforme during the course of the disease. Two missense mutations in two patients were identified in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). Both mutations were present in the homozygous state. Serial MR imaging findings as well as MR spectroscopy imaging is reported in a patient who developed glioblastoma multiforme."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.org/dc/terms/identifier | "doi:10.1055/s-2008-1081217"xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Jobard F."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Sass J.O."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Topcu M."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Coskun T."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Haliloglu G."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Oguz K.K."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Anlar B."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/author | "Akalan N."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/name | "Neuropediatrics"xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/pages | "119-122"xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/title | "L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings."xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://purl.uniprot.org/core/volume | "39"xsd:string |
| http://purl.uniprot.org/citations/18671189 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18671189 |
| http://purl.uniprot.org/citations/18671189 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18671189 |
| http://purl.uniprot.org/uniprot/#_A8K9B2-mappedCitation-18671189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18671189 |
| http://purl.uniprot.org/uniprot/#_Q9H9P8-mappedCitation-18671189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18671189 |
| http://purl.uniprot.org/uniprot/A8K9B2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/18671189 |
| http://purl.uniprot.org/uniprot/Q9H9P8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/18671189 |