Literature DB >> 9686370

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

K M Gibson1, L Sweetman, V Kozich, A Pijackova, A Tscharre, A Cortez, F Eyskens, C Jakobs, M Duran, B T Poll-The.   

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Year:  1998        PMID： 9686370     DOI： 10.1023/a:1005368106563

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


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  10 in total

1.  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

2.  Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.

Authors:  F Trettel; P Malaspina; C Jodice; A Novelletto; C A Slaughter; D L Caudle; D D Hinson; K L Chambliss; K M Gibson
Journal:  Adv Exp Med Biol       Date:  1997       Impact factor: 2.622

3.  A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.

Authors:  P Divry; P Baltassat; M O Rolland; J Cotte; M Hermier; M Duran; S K Wadman
Journal:  Clin Chim Acta       Date:  1983-04-25       Impact factor: 3.786

4.  Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.

Authors:  K M Gibson; S Aramaki; L Sweetman; W L Nyhan; D C DeVivo; A K Hodson; C Jakobs
Journal:  Biomed Environ Mass Spectrom       Date:  1990-02

5.  Identification and quantitation of 1,4-butanediol in mammalian tissues: an alternative biosynthetic pathway for gamma-hydroxybutyric acid.

Authors:  S A Barker; O C Snead; F Poldrugo; C C Liu; F P Fish; R L Settine
Journal:  Biochem Pharmacol       Date:  1985-05-15       Impact factor: 5.858

6.  The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Authors:  K M Gibson; E Christensen; C Jakobs; B Fowler; M A Clarke; G Hammersen; K Raab; J Kobori; A Moosa; B Vollmer; E Rossier; A K Iafolla; D Matern; O F Brouwer; J Finkelstein; F Aksu; H P Weber; J A Bakkeren; F J Gabreels; D Bluestone; T F Barron; P Beauvais; D Rabier; C Santos; W Lehnert
Journal:  Pediatrics       Date:  1997-04       Impact factor: 7.124

7.  Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Authors:  K M Gibson; C Baumann; H Ogier; E Rossier; B Vollmer; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues.

Authors:  K L Chambliss; Y A Zhang; E Rossier; B Vollmer; K M Gibson
Journal:  J Neurochem       Date:  1995-08       Impact factor: 5.372

9.  Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.

Authors:  K L Chambliss; D L Caudle; D D Hinson; C R Moomaw; C A Slaughter; C Jakobs; K M Gibson
Journal:  J Biol Chem       Date:  1995-01-06       Impact factor: 5.157

10.  Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.

Authors:  P P Pattarelli; W L Nyhan; K M Gibson
Journal:  Pediatr Res       Date:  1988-10       Impact factor: 3.756
  10 in total
  1 in total

1.  Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.

Authors:  A Latini; K Scussiato; G Leipnitz; K M Gibson; M Wajner
Journal:  J Inherit Metab Dis       Date:  2007-09-21       Impact factor: 4.982
  1 in total

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