D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: Coincidence, or linked disorders?

Neuropediatrics

Volumn 35, Issue 3, 2004, Pages 151-156

  Korman, S H ^a   Salomons, G S ^b   Gutman, A ^a   Brooks, R ^a   Jakobs, C ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

3 hydroxyglutaric acid; D 2 hydroxyglutaric acid; GCDH mutation; Organic acid disorders

Indexed keywords

2 HYDROXYGLUTARIC ACID; 3 HYDROXYGLUTARIC ACID; GENOMIC DNA; GLUTARIC ACID; UNCLASSIFIED DRUG;

ACIDURIA; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE MUTATION; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; MALE; MISSENSE MUTATION; NEUROIMAGING; NEUROLOGICAL COMPLICATION; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING;

BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SIBLINGS;

EID: 3242656398     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-817905     Document Type: Article

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