L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene (CROSBI ID 740048)
Prilog sa skupa u časopisu | izvorni znanstveni rad
Podaci o odgovornosti
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.
engleski
L-2-hydroxyglutaric aciduria: novel mutations in the L-2-hydroxyglutarate dehydrogenase gene
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.
L-2-hydroxyglutaric aciduria ; mutations ; L-2-hydroxyglutarate dehydrogenase gene
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
93-93.
2005.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Journal of inherited metabolic disease
0141-8955
Podaci o skupu
Nepoznat skup
ostalo
29.02.1904-29.02.2096
