Literature DB >> 18811705

'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.

Susan R Crutchfield, Richard H Haas, William L Nyhan, K Michael Gibson.   

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Year:  2008        PMID： 18811705      PMCID： PMC2668832          DOI： 10.1111/j.1469-8749.2008.03116.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  9 in total

Review 1.  Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.

Authors:  K M Gibson; C Jakobs; P L Pearl; O C Snead
Journal:  IUBMB Life       Date:  2005-09       Impact factor: 3.885

2.  Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.

Authors:  Andrea Buzzi; Ying Wu; Marina V Frantseva; Jose L Perez Velazquez; Miguel A Cortez; Chun C Liu; Li Q Shen; K Michael Gibson; O Carter Snead
Journal:  Brain Res       Date:  2006-05-02       Impact factor: 3.252

3.  Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms.

Authors:  Ying Wu; Andrea Buzzi; Marina Frantseva; Jose Perez L Velazquez; Miguel Cortez; Chunche Liu; Liqing Shen; K Michael Gibson; O Carter Snead
Journal:  Ann Neurol       Date:  2006-01       Impact factor: 10.422

4.  Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain.

Authors:  Ashok K Mehta; Georgianna G Gould; Maneesh Gupta; Lawrence P Carter; K Michael Gibson; Maharaj K Ticku
Journal:  Mol Genet Metab       Date:  2006-01-10       Impact factor: 4.797

5.  Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Authors:  I Knerr; P L Pearl; T Bottiglieri; O Carter Snead; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2007-04-24       Impact factor: 4.982

6.  Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Authors:  Ina Knerr; K Michael Gibson; Cornelis Jakobs; Phillip L Pearl
Journal:  CNS Spectr       Date:  2008-07       Impact factor: 3.790

7.  4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

Authors:  K M Gibson; G Hoffmann; W L Nyhan; S Aramaki; J A Thompson; S I Goodman; D A Johnson; R R Fife
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

Review 8.  The pediatric neurotransmitter disorders.

Authors:  Phillip L Pearl; Jacob L Taylor; Stacey Trzcinski; Alex Sokohl
Journal:  J Child Neurol       Date:  2007-05       Impact factor: 1.987

9.  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
  9 in total
  1 in total

1.  Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Authors:  G Di Rosa; P Malaspina; P Blasi; C Dionisi-Vici; C Rizzo; G Tortorella; S R Crutchfield; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2009-05-30       Impact factor: 4.982
  1 in total

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