Literature DB >> 7609442

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.

K L Chambliss1, C F Lee, H Ogier, D Rabier, C Jakobs, K M Gibson.   

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Year:  1993        PMID: 7609442     DOI: 10.1007/BF00711671

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


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  8 in total

1.  Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Authors:  C Jakobs; H Ogier; D Rabier; K M Gibson
Journal:  Prenat Diagn       Date:  1993-02       Impact factor: 3.050

2.  Electron-cytochemical localization of succinic semialdehyde dehydrogenase activity in Purkinje neurons and hepatocytes of the rat.

Authors:  G Bernocchi; S Barni; M Biggiogera
Journal:  J Neurosci Methods       Date:  1986-07       Impact factor: 2.390

3.  Succinic semialdehyde dehydrogenase activity in bovine adrenal medulla and blood platelets: a comparative study with the brain enzyme.

Authors:  M P González; M J Oset-Gasque; A Gimenez Solves; S Cañadas
Journal:  Comp Biochem Physiol B       Date:  1987

4.  Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum.

Authors:  K L Chambliss; K M Gibson
Journal:  Int J Biochem       Date:  1992-09

Review 5.  Inherited disorders of GABA metabolism.

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

6.  Identification of the mouse aldehyde dehydrogenases important in aldophosphamide detoxification.

Authors:  C L Manthey; G J Landkamer; N E Sladek
Journal:  Cancer Res       Date:  1990-08-15       Impact factor: 12.701

7.  The distribution of GABA-transaminase-dehydrogenase activity in the myenteric plexus of rat small intestine: a histochemical analysis.

Authors:  A Krantis; R K Harding
Journal:  Neurosci Lett       Date:  1986-02-14       Impact factor: 3.046

8.  Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.

Authors:  G K Brown; C H Cromby; N J Manning; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

  8 in total
  6 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

2.  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

3.  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

Review 4.  Inherited disorders of GABA metabolism.

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

Review 5.  Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

Authors:  P Malaspina; J-B Roullet; P L Pearl; G R Ainslie; K R Vogel; K M Gibson
Journal:  Neurochem Int       Date:  2016-06-14       Impact factor: 3.921

6.  Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Authors:  K L Chambliss; D D Hinson; F Trettel; P Malaspina; A Novelletto; C Jakobs; K M Gibson
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

  6 in total

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