D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses

American Journal of Medical Genetics

Volumn 120 A, Issue 4, 2003, Pages 523-527

  Clarke, Nigel F ^a   Andrews, Ian ^a,b   Carpenter, Kevin ^c   Jakobs, Cornelis ^d   Van der Knaap, Marjo S ^d   Kirkl, Edwin P ^a,b  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

D 2 hydroxyglutaric aciduria; Encephalopathy; Epilepsy; Inborn errors; Organic aciduria; Prenatal diagnosis

Indexed keywords

DEXTRO 2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ACIDURIA; AMNION FLUID; ANTEVERTED EAR; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CEREBRAL BLINDNESS; COARSE FACE; DEVELOPMENTAL DISORDER; DEXTRO 2 HYDROXYGLUTARIC ACIDURIA; DISEASE COURSE; EAR MALFORMATION; EPILEPSY; FACE MALFORMATION; FEMALE; FLAT FACE; HUMAN; INFANT; MUSCLE HYPOTONIA; NOSE MALFORMATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0041322602     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20120     Document Type: Article

References (10)

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