Pregled bibliografske jedinice broj: 215011
L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene
L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene // Journal of inherited metabolic disease, 28 (2005), suppl 1; 93-93 (podatak o recenziji nije dostupan, kongresno priopcenje, znanstveni)
CROSBI ID: 215011 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene
Autori
Salomons, GS ; van Dooren, SJM ; van der Knapp, MS ; Elting, MW ; Ribes, A. ; Barić, Ivo ; Holton, A. ; Neubauer, B. ; Korman, S. ; Rumenapf, T. ; Hennermann ; JB ; Lee, C. ; Aydin, A. ; Vianey-Saban, C. ; Zafeiriou, DI ; Suri, M. ; Coker, EM ; Verhoeven, NM ; Jakobs, C.
Izvornik
Journal of inherited metabolic disease (0141-8955) 28
(2005), Suppl 1;
93-93
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni
Ključne riječi
L-2-hydroxyglutaric aciduria ; mutations ; L-2-hydroxyglutarate dehydrogenase gene
Sažetak
L-2-HGA is a rare autosomal recessive neurrometabolic disorder, which was recently described to be caused by mutations in the L-2-HGA gene. WE therefore investigated if this gene caused the disease in 20 unrelated families (24 patients.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
Uključenost u ostale bibliografske baze podataka::
- Excerpta Medica
- Index Medicus
