Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 200-205

  Misra, Vinod K ^a   Struys, Eduard A ^b   O'Brien, William ^c   Salomons, Gajja S ^b   Glover, Thomas ^d   Jakobs, Cornelis ^b   Innis, Jeffrey W ^a,d  

^a UNIVERSITY OF MICHIGAN   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

D 2 Hydroxyglutarate dehydrogenase; D 2 Hydroxyglutaric aciduria; Discordance; Epigenetics; Inborn error of metabolism; Monozygous; Mutation; Twins

Indexed keywords

2 HYDROXYGLUTARATE DEHYDROGENASE; 2 HYDROXYGLUTARIC ACID; AMINO ACID; ASPARTIC ACID; GLUTAMIC ACID; GUANINE NUCLEOTIDE; PROTEIN; PYRIMIDINE NUCLEOTIDE; UNCLASSIFIED DRUG;

ACIDURIA; ALLELE; ARTICLE; CASE REPORT; CHILD; COGNITION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; EPIGENETICS; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMAN; MOLECULAR GENETICS; MONOZYGOTIC TWINS; NEURORADIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SIBLING;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA PRIMERS; FEMALE; GLUTARATES; HUMANS; METABOLISM, INBORN ERRORS; PHENOTYPE; TWINS, MONOZYGOTIC;

EID: 26244453167     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.005     Document Type: Article

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