An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Human mutation

Volumn 31, Issue 4, 2010, Pages 380-390

  Steenweg, Marjan E ^a   Jakobs, Cornelis ^b   Errami, Abdellatif ^b   van Dooren, Silvy J M ^b   Adeva Bartolomé, Maria T ^b   Aerssens, Peter ^b   Augoustides Savvapoulou, Persephone ^b   Baric, Ivo ^b   Baumann, Matthias ^b   Bonafé, Luisa ^b   Chabrol, Brigitte ^b   Clarke, Joe T R ^b   Clayton, Peter ^b   Coker, Mahmut ^b   Cooper, Sarah ^b   Falik Zaccai, Tzipora ^b   Gorman, Mark ^b   Hahn, Andreas ^b   Hasanoglu, Alev ^b   King, Mary D ^b   de Klerk, Hans B C ^b   Korman, Stanley H ^b   Lee, Céline ^b   Meldgaard Lund, Allan ^b   Mejaski Bosnjak, Vlatka ^b   Pascual Castroviejo, Ignacio ^b   Raadhyaksha, Aparna ^b   Rootwelt, Terje ^b   Roubertie, Agathe ^b   Ruiz Falco, Maria L ^b   Scalais, Emmanuel ^b   Schimmel, Ulf ^b   Seijo Martinez, Manuel ^b   Suri, Mohnish ^b   Sykut Cegielska, Jolanta ^b   Trefz, Friedrich K ^b   Uziel, Graziella ^b   Valayannopoulos, Vassili ^b   Vianey Saban, Christine ^b   Vlaho, Stefan ^b   Vodopiutz, Julia ^b   Wajner, Moacir ^b   Walter, John ^b   Walter Derbort, Claudia ^b   Yapici, Zuhal ^b   Zafeiriou, Dimitrios I ^b   Spreeuwenberg, Marieke D ^b   Celli, Jacopo ^b   den Dunnen, Johan T ^b   van der Knaap, Marjo S ^b   Salomons, Gajja S ^b   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARATE DEHYDROGENASE; 2-HYDROXYGLUTARATE DEHYDROGENASE; ALCOHOL DEHYDROGENASE;

ANIMAL; DISEASE MODEL; ENZYMOLOGY; GENETIC ASSOCIATION; GENETICS; HUMAN; METABOLIC ENCEPHALOPATHY; MUTATION; PATHOLOGY; REVIEW;

ALCOHOL OXIDOREDUCTASES; ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; DISEASE MODELS, ANIMAL; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION;

EID: 77955079630     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21197     Document Type: Review

References (42)