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n‐2‐Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage
dc.contributor.authorWang, X.
dc.contributor.authorJakobs, C.
dc.contributor.authorBawle, D. V.
dc.date.accessioned2019-01-15T20:29:18Z
dc.date.available2019-01-15T20:29:18Z
dc.date.issued2003-07
dc.identifier.citationWang, X.; Jakobs, C.; Bawle, D. V. (2003). "n‐2‐Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage." Journal of Inherited Metabolic Disease 26(1): 92-94.
dc.identifier.issn0141-8955
dc.identifier.issn1573-2665
dc.identifier.urihttps://hdl.handle.net/2027.42/147077
dc.description.abstractSummary: We report D‐2‐hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D‐2‐hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography–mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should raise the suspicion for metabolic disease, and especially organic acidurias.
dc.publisherWiley Periodicals, Inc.
dc.publisherKluwer Academic Publishers
dc.titlen‐2‐Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelMedicine (General)
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147077/1/jimd0092.pdf
dc.identifier.doi10.1023/A:1024000202364
dc.identifier.sourceJournal of Inherited Metabolic Disease
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dc.identifier.citedreferenceGibson 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.
dc.identifier.citedreferenceEeg‐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.
dc.identifier.citedreferenceBaker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP ( 1997 ) D‐2‐Hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle. J Child Neurol, 12: 31 – 36.
dc.identifier.citedreferencevan der Knapp MS, Jakobs C, Hoffmann GF et al ( 1999 ) D‐2‐Hydroxyglutaric aciduria: further clinical delineation. J Inherit Metab Dis, 22: 404 – 413.
dc.identifier.citedreferencevan der Knapp MS, Jakobs C, Ho¡mann GF et al ( 1999 ) D‐2‐Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?. Ann Neurol, 45: 111 – 119.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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