D-2-hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage

Journal of Inherited Metabolic Disease

Volumn 26, Issue 1, 2003, Pages 92-94

  Wang, Xia ^a   Jakobs, C ^b   Bawle, E V ^a  

^a WAYNE STATE UNIVERSITY   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

2 HYDROXYGLUTARIC ACIDURIA; AMINOACIDURIA; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; CHIRAL CHROMATOGRAPHY; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; HUMAN; INBORN ERROR OF METABOLISM; MALE; MASS SPECTROMETRY; NEWBORN;

ABNORMALITIES, MULTIPLE; AMINO ACID METABOLISM, INBORN ERRORS; CORPUS CALLOSUM; EPILEPSY, TONIC-CLONIC; GLUTARATES; HUMANS; INFANT, NEWBORN; INTRACRANIAL HEMORRHAGES; MAGNETIC RESONANCE IMAGING; MALE;

EID: 0038389511     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1024000202364     Document Type: Article

References (7)

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3. Eeg-Olofsson O, Zhang WW, Olsson Y, Jagell S, Hagenfeldt L (2000) D-2-Hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy. J Child Neurol 15: 488-492.
4. Gibson KM, ten Brink HJ, Schor DS, et al (1993) Stable-isotope dilution of D-2- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D-2- and L-2-hydroxyglutaric acidemias. Pediatr Res 34: 277-280.
5. Nyhan WL, Shelton GD, Jakobs C, et al (1995) D-2-Hydroxyglutaric aciduria. J Child Neurol 10(2): 137-142.
6. van der Knapp MS, Jakobs C, Hoffmann GF, et al (1999a) D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 45: 111-119.
7. van der Knapp MS, Jakobs C, Hoffmann GF, et al (1999b) D-2-Hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis 22: 404-413.