Literature DB >> 9266358

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.

K M Gibson1, A E Doskey, D Rabier, C Jakobs, C Morlat.   

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Year:  1997        PMID： 9266358     DOI： 10.1023/a:1005334129412

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


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  7 in total

1.  4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

Authors:  K M Gibson; C F Lee; K L Chambliss; V Kamali; B Francois; J Jaeken; C Jakobs
Journal:  Clin Chim Acta       Date:  1991-02-15       Impact factor: 3.786

2.  The first adult case with 4-hydroxybutyric aciduria.

Authors:  C Jakobs; L M Smit; J Kneer; T Michael; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  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

4.  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

5.  Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).

Authors:  D Matern; W Lehnert; K M Gibson; R Korinthenberg
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 6.  Inherited disorders of GABA metabolism.

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

7.  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
  7 in total
  1 in total

Review 1.  Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.

Authors:  Yannis J Trakadis; Vanessa Fulginiti; Mark Walterfang
Journal:  J Inherit Metab Dis       Date:  2017-02-16       Impact factor: 4.982
  1 in total

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