IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Science

Volumn 330, Issue 6002, 2010, Pages 336-

  Kranendijk, Martijn ^a   Struys, Eduard A ^a   Van Schaftingen, Emile ^b   Gibson, K Michael ^b   Kanhai, Warsha A ^a   Van Der Knaap, Marjo S ^b   Amiel, Jeanne ^b   Buist, Neil R ^b   Das, Anibh M ^b   De Klerk, Johannis B ^b   Feigenbaum, Annette S ^b   Grange, Dorothy K ^b   Hofstede, Floris C ^b   Holme, Elisabeth ^b   Kirk, Edwin P ^b   Korman, Stanley H ^b   Morava, Eva ^b   Morris, Andrew ^b   Smeitink, Jan ^b   Sukhai, Rám N ^b   Vallance, Hilary ^b   Jakobs, Cornelis ^a   Salomons, Gajja S ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE ISOENZYME; UNCLASSIFIED DRUG; ALPHA-HYDROXYGLUTARATE; GLUTARIC ACID DERIVATIVE; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE 2, HUMAN;

CANCER; ENZYME ACTIVITY; GENE; METABOLISM; MUTATION;

ACIDURIA; BRAIN TUMOR; GENE MUTATION; HUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SHORT SURVEY; ADOLESCENT; CHEMISTRY; CHILD; FEMALE; GENETICS; GERMLINE MUTATION; HETEROZYGOTE; INFANT; MALE; METABOLIC ENCEPHALOPATHY; METABOLISM; NEOPLASM; PRESCHOOL CHILD; URINE; YOUNG ADULT;

ADOLESCENT; BRAIN DISEASES, METABOLIC, INBORN; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; GLUTARATES; HETEROZYGOTE; HUMANS; INFANT; ISOCITRATE DEHYDROGENASE; MALE; NEOPLASMS; YOUNG ADULT;

EID: 77957948775     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1192632     Document Type: Short Survey

References (9)

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