Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1007/s10072-010-0416-0 (literal)

Alternative label

• Mazzei R.; Ungaro C.; Garreffa G.; Conforti F.L.; Mollo A.; Sprovieri T.; Servillo P.; Blasi V.; Gallo O.; Cerasa A.; Lanza P.L.; Quattrone A. (2011)
  Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria
  in Neurological sciences (Testo stamp.)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Mazzei R.; Ungaro C.; Garreffa G.; Conforti F.L.; Mollo A.; Sprovieri T.; Servillo P.; Blasi V.; Gallo O.; Cerasa A.; Lanza P.L.; Quattrone A. (literal)

Pagina inizio

• 95 (literal)

Pagina fine

• 99 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://www.scopus.com/inward/record.url?eid=2-s2.0-79551590480&partnerID=q2rCbXpz (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 32 (literal)

Rivista

• Neurological sciences (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 1 (literal)

Note

• Scopu (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Institute of Neurological Sciences, National Research Council, Loc. Burga, Piano Lago di Mangone (CS) 87050, Italy; Department of Neurosciences, Psychiatric and Anesthesiological Sciences, University of Messina, Messina, Italy; Enrico Fermi Center, Rome, Italy; ASP 4, Cosenza, Italy; Institute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)

Titolo

• Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria (literal)

Abstract

• 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. © 2010 Springer-Verlag. (literal)

Prodotto di

• Institute of neurological sciences (ISN) (Istituto)

Autore CNR

• ROSALUCIA MAZZEI (Unità di personale interno)
• PIER LUIGI LANZA (Persona)
• FRANCESCA LUISA CONFORTI (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• FRANCESCA LUISA CONFORTI (Unità di personale interno)
• ROSALUCIA MAZZEI (Unità di personale interno)
• PIER LUIGI LANZA (Persona)

Prodotto

• Institute of neurological sciences (ISN) (Istituto)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Neurological sciences (Rivista)

Insieme di parole chiave di

• Parole chiave di "Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria" (Insieme di parole chiave)