Literature DB >> 7541876

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

R M Kok1, D W Howells, C C van den Heuvel, W S Guérand, G N Thompson, C Jakobs.   

Abstract

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Year:  1993        PMID： 7541876     DOI： 10.1007/bf00711667

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


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  8 in total

Review 1.  Review: Normal and abnormal central nervous system GABA metabolism in childhood.

Authors:  J Jaeken; P Casaer; K D Haegele; P J Schechter
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Reference values for free gamma-aminobutyric acid determined by ion-exchange chromatography and fluorescence detection in the cerebrospinal fluid of children.

Authors:  H A Carchon; J Jaeken; E Jansen; E Eggermont
Journal:  Clin Chim Acta       Date:  1991-09-14       Impact factor: 3.786

3.  Succinic semialdehyde dehydrogenase deficiency--a further case.

Authors:  E A Haan; G K Brown; D Mitchell; D M Danks
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Gamma-aminobutyric acid determination in human cerebrospinal fluid by mass-fragmentography.

Authors:  J D Huizinga; A W Teelken; F A Muskiet; H J Jeuring; B G Wolthers
Journal:  J Neurochem       Date:  1978-04       Impact factor: 5.372

5.  gamma-Aminobutyric acid (GABA) in human cerebrospinal fluid: radioreceptor assay.

Authors:  S J Enna; J H Wood; S H Snyder
Journal:  J Neurochem       Date:  1977-05       Impact factor: 5.372

6.  Artifactual increases in the concentration of free GABA in samples of human cerebrospinal fluid are due to degradation of homocarnosine.

Authors:  J Grove; P J Schechter; G Tell; L Rumbach; C Marescaux; J M Warter; J Koch-Weser
Journal:  J Neurochem       Date:  1982-10       Impact factor: 5.372

7.  Determination of delta-aminobutyric acid and other amino acids in cerebrospinal fluid of pediatric patients by reversed-phase liquid chromatography.

Authors:  R F Goldsmith; J W Earl; A M Cunningham
Journal:  Clin Chem       Date:  1987-10       Impact factor: 8.327

Review 8.  Inherited disorders of GABA metabolism.

Authors:  C Jakobs; J Jaeken; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  8 in total
  16 in total

1.  Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Authors:  K M Gibson; L Sweetman; V Kozich; A Pijackova; A Tscharre; A Cortez; F Eyskens; C Jakobs; M Duran; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  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

3.  Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

Authors:  K M Gibson; C Jakobs; H Ogier; L Hagenfeldt; K E Eeg-Olofsson; O Eeg-Olofsson; F Aksu; H P Weber; E Rossier; B Vollmer
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 4.  Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.

Authors:  Kara R Vogel; Garrett R Ainslie; Dana C Walters; Alice McConnell; Sameer C Dhamne; Alexander Rotenberg; Jean-Baptiste Roullet; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2018-02-19       Impact factor: 4.982

5.  Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Authors:  E Mayatepek; G F Hoffmann; R Baumgartner; A Schulze; C Jakobs; F K Trefz; H J Bremer
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

6.  Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Authors:  K R Vogel; G R Ainslie; E E W Jansen; G S Salomons; K M Gibson
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2016-10-17       Impact factor: 5.187

Review 7.  4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

Authors:  L K Medina-Kauwe; A J Tobin; L De Meirleir; J Jaeken; C Jakobs; W L Nyhan; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

8.  Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD).

Authors:  Kristen J Skvorak; Elizabeth J Hager; Erland Arning; Teodoro Bottiglieri; Harbhajan S Paul; Stephen C Strom; Gregg E Homanics; Qin Sun; Erwin E W Jansen; Cornelis Jakobs; William J Zinnanti; K Michael Gibson
Journal:  Biochim Biophys Acta       Date:  2009-08-19

9.  Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Authors:  Trevor Kirby; Dana C Walters; Madalyn Brown; Erwin Jansen; Gajja S Salomons; Coleman Turgeon; Piero Rinaldo; Erland Arning; Paula Ashcraft; Teodoro Bottiglieri; Jean-Baptiste Roullet; K Michael Gibson
Journal:  Metab Brain Dis       Date:  2020-03-14       Impact factor: 3.584

10.  Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.

Authors:  Erwin E W Jansen; Eduard Struys; Cornelis Jakobs; Elizabeth Hager; O Carter Snead; K Michael Gibson
Journal:  BMC Dev Biol       Date:  2008-11-28       Impact factor: 1.978
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