D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)

Human Mutation

Volumn 31, Issue 12, 2010, Pages 1280-1285

  Sass, Jörn Oliver ^a   Fischer, Kathleen ^a   Wang, Raymond ^b   Christensen, Ernst ^c   Scholl Bürgi, Sabine ^d   Chang, Richard ^b   Kapelari, Klaus ^d   Walter, Melanie ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^c Rigshospitalet   (Denmark)

^d Universitatsklinik fur Kinder und Jugendheilkunde Innsbruck   (Austria)

Author keywords

Chirality; D glycerate; Enantiomer; Fructose; Inborn error of metabolism; Serine

Indexed keywords

DEXTRO GLYCERATE KINASE; GLYCERIC ACID; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CASE REPORT; CELL STRAIN HEK293; CONTROLLED STUDY; DEXTRO GLYCERIC ACIDURIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE MUTATION; GENE OVEREXPRESSION; GENETIC VARIABILITY; HUMAN; IMMUNOREACTIVITY; INBORN ERROR OF METABOLISM; INFANT; MALE; MEXICO; PRIORITY JOURNAL; SERBIA; TURKEY (REPUBLIC);

AMINO ACID SEQUENCE; BASE SEQUENCE; BODY FLUIDS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENE EXPRESSION REGULATION; GLYCERIC ACIDS; HEK293 CELLS; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PREGNANCY; SEQUENCE ALIGNMENT; TRANSFECTION;

EID: 78649622579     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21375     Document Type: Article

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