Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

Journal of Inherited Metabolic Disease

Volumn 32, Issue 6, 2009, Pages 713-719

  Kranendijk, M ^a   Salomons, G S ^a   Gibson, K M ^b   Aktuglu Zeybek, C ^c   Bekri, S ^d   Christensen, E ^e   Clarke, J ^f   Hahn, A ^g   Korman, S H ^h   Mejaski Bosnjak, V ⁱ   Superti Furga, A ^j   Vianey Saban, C ^k   Van Der Knaap, M S ^a   Jakobs, C ^a   Struys, E A ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e Rigshospitalet   (Denmark)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g JUSTUS LIEBIG UNIVERSITY   (Germany)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ Croatia   (Croatia)

^j UNIVERSITY OF FREIBURG   (Germany)

^k HOSPICES CIVILS DE LYON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; FLAVINE ADENINE NUCLEOTIDE; GLUTAMIC ACID; LEVO 2 HYDROXYGLUTARATE DEHYDROGENASE; OXIDOREDUCTASE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; BIOCHEMISTRY; CELL LYSATE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME SPECIFICITY; FIBROBLAST; HUMAN; HUMAN CELL; ISOTOPE LABELING; LEVO 2 HYDROXYGLUTARATE DEHYDROGENASE DEFICIENCY; LEVO 2 HYDROXYGLUTARIC ACIDURIA; LYMPHOBLAST; LYMPHOCYTE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE;

EID: 76949088401     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1282-x     Document Type: Article

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