| pubmed-article:20859647 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C2926606 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0337810 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C1855995 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C2607943 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0314603 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0917874 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:20859647 | lifeskim:mentions | umls-concept:C0392760 | lld:lifeskim |
| pubmed-article:20859647 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:20859647 | pubmed:dateCreated | 2011-1-25 | lld:pubmed |
| pubmed-article:20859647 | pubmed:abstractText | L-2-Hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disease characterized by the presence of elevated levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. Clinical features in this inherited condition consist of mental deterioration, ataxia and motor deficits with pyramidal and extrapyramidal symptoms and signs. L-2-HGA is caused by mutations in the L-2-HGDH gene which most probably encodes for a L-2-hydroxyglutarate dehydrogenase, a putative mitochondrial protein converting L-2-hydroxyglutarate to alphaketoglutarate. Here, we report a pathogenic nonsense mutation in the L-2-HGDH gene found for the first time in an Italian patient affected by L-2-HGA, reinforcing the previously described phenotype of this rare metabolic disease and confirming the data indicating that mutations in the L-2-HGDH gene cause L-2-HGA. | lld:pubmed |
| pubmed-article:20859647 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20859647 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20859647 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20859647 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20859647 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20859647 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:20859647 | pubmed:issn | 1590-3478 | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:QuattroneAldo... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:ConfortiFranc... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:MazzeiRosaluc... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:SprovieriTere... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:CerasaAntonio... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:GarreffaGirol... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:GalloOlivierO | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:LanzaPier... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:UngaroCarmine... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:ServilloPasqu... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:MolloAntonell... | lld:pubmed |
| pubmed-article:20859647 | pubmed:author | pubmed-author:BlasiVincenzo... | lld:pubmed |
| pubmed-article:20859647 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20859647 | pubmed:volume | 32 | lld:pubmed |
| pubmed-article:20859647 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20859647 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20859647 | pubmed:pagination | 95-9 | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:meshHeading | pubmed-meshheading:20859647... | lld:pubmed |
| pubmed-article:20859647 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:20859647 | pubmed:articleTitle | Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. | lld:pubmed |
| pubmed-article:20859647 | pubmed:affiliation | Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Piano Lago di Mangone (CS), Italy. r.mazzei@isn.cnr.it | lld:pubmed |
| pubmed-article:20859647 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20859647 | pubmed:publicationType | Case Reports | lld:pubmed |
