Literature DB >> 7609436

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

K M Gibson1, W Craigen, G E Herman, C Jakobs.   

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Year:  1993        PMID： 7609436     DOI： 10.1007/BF00711664

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


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  7 in total

1.  L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.

Authors:  P G Barth; G F Hoffmann; J Jaeken; W Lehnert; F Hanefeld; A H van Gennip; M Duran; J Valk; R B Schutgens; F K Trefz
Journal:  Ann Neurol       Date:  1992-07       Impact factor: 10.422

2.  Propionate metabolism. 3. Studies on the significance of the alpha-hydroxyglutarate pathway.

Authors:  W S Wegener; H C Reeves; S J Ajl
Journal:  Arch Biochem Biophys       Date:  1968-01       Impact factor: 4.013

3.  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

4.  alpha-Hydroxyglutarate as an intermediate in the catabolism of alpha-aminoadipate by Pseudomonas putida.

Authors:  J J Kopchick; R A Hartline
Journal:  J Biol Chem       Date:  1979-05-10       Impact factor: 5.157

5.  Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria.

Authors:  E E Kaufman; T Nelson; H M Fales; D M Levin
Journal:  J Biol Chem       Date:  1988-11-15       Impact factor: 5.157

6.  L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

Authors:  M Duran; J P Kamerling; H D Bakker; A H van Gennip; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

7.  The reversible dehydration of (R)-2-hydroxyglutarate to (E)-glutaconate.

Authors:  W Buckel
Journal:  Eur J Biochem       Date:  1980-05
  7 in total
  14 in total

1.  D-2-hydroxyglutaric aciduria: further clinical delineation.

Authors:  M S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; R I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.

Authors:  E A Struys; N M Verhoeven; H J Ten Brink; W V Wickenhagen; K M Gibson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

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

Authors:  L Wagner; G F Hoffmann; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 4.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

5.  L-2-hydroxyglutaric aciduria: two further cases.

Authors:  P Divry; C Jakobs; C Vianey-Saban; K M Gibson; H Michelakakis; A Papadimitriou; R Divari; B Chabrol; M A Cournelle; M O Livet
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.

Authors:  G F Hoffmann; C Jakobs; B Holmes; L Mitchell; G Becker; H P Hartung; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

7.  D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.

Authors:  R J Wanders; P Mooyer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.

Authors:  M Wajne; C R Vargas; C Funayama; A Fernandez; M L C Elias; S I Goodman; C Jakobs; M S van der Knaap
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

9.  Inhibition of mitochondrial creatine kinase activity by D-2-hydroxyglutaric acid in cerebellum of young rats.

Authors:  Cleide G da Silva; Ana Rubia F Bueno; Rafael B Rosa; Carlos S Dutra Filho; Clovis M D Wannmacher; Angela T S Wyse; Moacir Wajner
Journal:  Neurochem Res       Date:  2003-09       Impact factor: 3.996

10.  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
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