| http://purl.uniprot.org/citations/25614306 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25614306 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25614306 | http://www.w3.org/2000/01/rdf-schema#comment | "Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two siblings compound heterozygotes for null/missense SLC25A1 mutations, c.18_24dup (p.Ala9Profs*82), and c.134C>T (p.Pro45Leu). These children presented with classic clinical features of D,L-2-HGA, but also showed marked facial dysmorphism. Additionally, there was prominent lactic acidosis in one of the siblings. Our observations suggest that facial dysmorphism is a previously unrecognized but an important diagnostic feature of SLC25A1 deficiency and expand the clinical phenotype linked to SLC25A1 mutations."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.org/dc/terms/identifier | "doi:10.1007/8904_2014_378"xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.org/dc/terms/identifier | "doi:10.1007/8904_2014_378"xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Young S."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Young S."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Struys E."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Struys E."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "McDonald M."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "McDonald M."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Prasun P."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Prasun P."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Jiang Y.H."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Jiang Y.H."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Salomons G."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Salomons G."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Avantaggiati M.L."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Avantaggiati M.L."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Paige M."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Paige M."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Werneke A."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/author | "Werneke A."xsd:string |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25614306 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |