Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?

Neuropediatrics

Volumn 31, Issue 3, 2000, Pages 137-140

  Muntau, Ania C ^a   Roschinger W ^a   Merkenschlager, A ^a   Van Der Knaap, M S ^b   Jakobs, C ^b   Duran, M ^c   Hoffmann, G F ^d   Roscher, A A ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Hydroxyglutaric aciduria; Infantile epilepsy; Inherited metabolic disorder; Neonatal onset encephalopathy; Organic aciduria; Prenatal diagnosis

Indexed keywords

GLUTARIC ACID DERIVATIVE;

ACIDURIA; ARTICLE; BIOCHEMISTRY; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; FEMALE; HUMAN; INFANT; MALE; METABOLIC ENCEPHALOPATHY; NEWBORN DISEASE; ONSET AGE; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; URINARY EXCRETION;

BIOLOGICAL MARKERS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHROMATOGRAPHY, GAS; DIAGNOSIS, DIFFERENTIAL; EPILEPSY; FEMALE; GLUTARATES; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MASS SPECTROMETRY; PRENATAL DIAGNOSIS;

EID: 0343628796     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-7497     Document Type: Article

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