Literature DB >> 7564243

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

G F Hoffmann1, C Jakobs, B Holmes, L Mitchell, G Becker, H P Hartung, W L Nyhan.   

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Year:  1995        PMID： 7564243     DOI： 10.1007/BF00711763

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


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  9 in total

1.  Pipecolic acid pathway: the major lysine metabolic route in the rat brain.

Authors:  Y F Chang
Journal:  Biochem Biophys Res Commun       Date:  1976-03-08       Impact factor: 3.575

2.  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

3.  Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.

Authors:  R M Kok; D W Howells; C C van den Heuvel; W S Guérand; G N Thompson; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  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

5.  Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.

Authors:  R M Kok; L Kaster; A P de Jong; B Poll-Thé; J M Saudubray; C Jakobs
Journal:  Clin Chim Acta       Date:  1987-09-30       Impact factor: 3.786

6.  Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.

Authors:  G Hoffmann; S Aramaki; E Blum-Hoffmann; W L Nyhan; L Sweetman
Journal:  Clin Chem       Date:  1989-04       Impact factor: 8.327

7.  L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Authors:  P G Barth; G F Hoffmann; J Jaeken; R J Wanders; M Duran; G A Jansen; C Jakobs; W Lehnert; F Hanefeld; J Valk
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population.

Authors:  G F Hoffmann; C K Seppel; B Holmes; L Mitchell; H J Christen; F Hanefeld; D Rating; W L Nyhan
Journal:  J Chromatogr       Date:  1993-07-23

9.  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
  9 in total
  4 in total

Review 1.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Authors:  Moacir Wajner; Stephen I Goodman
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

2.  Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.

Authors:  Débora Junqueira; Ana M Brusque; Lisiane O Porciúncula; Liane N Rotta; Céar A J Ribeiro; Marcos E S Frizzo; Carlos S Dutra Filho; Clóvis M D Wannmacher; Angela T S Wyse; Diogo O Souza; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2003-09       Impact factor: 3.584

3.  Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever.

Authors:  Suresh Kumar; Shikha Bhatia; Mukesh Surya; Sanjiv Sharma
Journal:  Ann Indian Acad Neurol       Date:  2020-06-10       Impact factor: 1.383

4.  Inflammatory multiple-sclerosis plaques generate characteristic metabolic profiles in cerebrospinal fluid.

Authors:  Norbert W Lutz; Angèle Viola; Irina Malikova; Sylviane Confort-Gouny; Bertrand Audoin; Jean-Philippe Ranjeva; Jean Pelletier; Patrick J Cozzone
Journal:  PLoS One       Date:  2007-07-04       Impact factor: 3.240
  4 in total

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