Facial anomalies in D-2-hydroxyglutaric aciduria

American Journal of Medical Genetics

Volumn 86, Issue 2, 1999, Pages 124-129

  Amiel, Jeanne ^a   De Lonlay, Pascale ^a   Francannet, Christine ^b   Picard, Alain ^c   Bruel, Henri ^d   Rabier, Daniel ^a   Le Merrer, Martine ^a   Verhoeven, Nanda ^e   Jakobs, Cornelis ^e   Lyonnet, Stanislas ^a   Munnich, Arnold ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^c CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^d LE HAVRE HOSPITAL   (France)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

D 2 hydroxyglutaric aciduria; Epileptic encephalopathy; Facial anomalies

Indexed keywords

CARBOXYLIC ACID; GLUTARIC ACID DERIVATIVE;

ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; EPILEPSY; FACE MALFORMATION; FEMALE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; CHILD; CRANIOFACIAL ABNORMALITIES; FEMALE; GLUTARATES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING;

EID: 0033543458     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990910)86:2<124::AID-AJMG7>3.0.CO;2-Q     Document Type: Article

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