Literature DB >> 9686368

D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity.

L Wagner1, G F Hoffmann, C Jakobs.   

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Year:  1998        PMID: 9686368     DOI: 10.1023/a:1005364004746

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  6 in total

1.  D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Authors:  K M Gibson; W Craigen; G E Herman; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  D-2-hydroxyglutaric aciduria: case report and biochemical studies.

Authors:  R A Chalmers; A M Lawson; R W Watts; A S Tavill; J P Kamerling; E Hey; D Ogilvie
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

3.  A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.

Authors:  G Zhao; M E Winkler
Journal:  J Bacteriol       Date:  1996-01       Impact factor: 3.490

4.  D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

Authors:  W J Craigen; C Jakobs; E A Sekul; M L Levy; K M Gibson; I J Butler; G E Herman
Journal:  Pediatr Neurol       Date:  1994-02       Impact factor: 3.372

5.  Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.

Authors:  K M Gibson; H J ten Brink; D S Schor; R M Kok; A H Bootsma; G F Hoffmann; C Jakobs
Journal:  Pediatr Res       Date:  1993-09       Impact factor: 3.756

6.  D-2-hydroxyglutaric aciduria.

Authors:  W L Nyhan; G D Shelton; C Jakobs; B Holmes; C Bowe; C J Curry; C Vance; M Duran; L Sweetman
Journal:  J Child Neurol       Date:  1995-03       Impact factor: 1.987

  6 in total
  1 in total

Review 1.  Progress in understanding 2-hydroxyglutaric acidurias.

Authors:  Martijn Kranendijk; Eduard A Struys; Gajja S Salomons; Marjo S Van der Knaap; Cornelis Jakobs
Journal:  J Inherit Metab Dis       Date:  2012-03-06       Impact factor: 4.982

  1 in total

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