Literature DB >> 16435212

Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.

M-H Read1, C Bonamy, D Laloum, F Belloy, J M Constans, B Guillois, M-L Kottler, N M Verhoeven, C Jakobs.   

Abstract

We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

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Year:  2005        PMID： 16435212     DOI： 10.1007/s10545-005-4565-x

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


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

Authors:  A C Muntau; W Röschinger; A Merkenschlager; M S van der Knaap; C Jakobs; M Duran; G F Hoffmann; A A Roscher
Journal:  Neuropediatrics       Date:  2000-06       Impact factor: 1.947

3.  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
  3 in total
  8 in total

1.  Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

Authors:  Chris Mühlhausen; Gajja S Salomons; Zoltan Lukacs; Eduard A Struys; Marjo S van der Knaap; Kurt Ullrich; René Santer
Journal:  J Inherit Metab Dis       Date:  2014-04-01       Impact factor: 4.982

Review 2.  D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.

Authors:  Eduard A Struys
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

Authors:  E A Struys; K M Gibson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2007-09-17       Impact factor: 4.982

Review 4.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

Review 5.  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

6.  Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate.

Authors:  Dinesh Rakheja; Richard L Boriack; Midori Mitui; Shama Khokhar; Shelby A Holt; Payal Kapur
Journal:  Tumour Biol       Date:  2010-11-16

7.  The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons.

Authors:  Katja Brauburger; Gerhard Burckhardt; Birgitta C Burckhardt
Journal:  J Inherit Metab Dis       Date:  2011-01-25       Impact factor: 4.982

8.  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Authors:  Ana Pop; Monique Williams; Eduard A Struys; Magnus Monné; Erwin E W Jansen; Anna De Grassi; Warsha A Kanhai; Pasquale Scarcia; Matilde R Fernandez Ojeda; Vito Porcelli; Silvy J M van Dooren; Pascal Lennertz; Benjamin Nota; Jose E Abdenur; David Coman; Anibh Martin Das; Areeg El-Gharbawy; Jean-Marc Nuoffer; Branka Polic; René Santer; Natalie Weinhold; Britton Zuccarelli; Ferdinando Palmieri; Luigi Palmieri; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2017-12-13       Impact factor: 4.982
  8 in total

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