| http://purl.uniprot.org/citations/19169842 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19169842 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19169842 | http://www.w3.org/2000/01/rdf-schema#comment | "D-2-hydroxyglutaric aciduria (D-2-HGA; OMIM 600721) is a rare autosomal recessive neurometabolic disorder with a wide clinical spectrum. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features. The mild phenotype has a more variable clinical expression with hypotonia and developmental delay. We present peripheral neuropathy as an additional clinical and electrophysiological feature in a 16-year-old boy with a homozygous missense mutation in exon 3 of the D-2-hydroxyglutarate dehydrogenase gene (D2HGDH) at position c.458T>C. This mutation results in replacement of a methionine residue, which was highly conserved during evolution, by threonine (p.Met153Thr)."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-009-0933-2"xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-009-0933-2"xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Fischer J."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Sass J.O."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Sass J.O."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Topcu M."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Topcu M."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Coskun T."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Coskun T."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Haliloglu G."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Haliloglu G."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Celiker A."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Celiker A."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Oguz K.K."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Oguz K.K."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Temucin C.M."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/author | "Temucin C.M."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |
| http://purl.uniprot.org/citations/19169842 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |