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Journal Abstract Search

295 related items for PubMed ID: 9553943

  • 1. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
    Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C.
    Neuropediatrics; 1998 Feb; 29(1):14-22. PubMed ID: 9553943
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  • 2. Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.
    Gropman A.
    Ann Neurol; 2003 Feb; 54 Suppl 6():S66-72. PubMed ID: 12891656
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  • 5. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
    Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W.
    Pediatrics; 1997 Apr; 99(4):567-74. PubMed ID: 9093300
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  • 7. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
    Buzzi A, Wu Y, Frantseva MV, Perez Velazquez JL, Cortez MA, Liu CC, Shen LQ, Gibson KM, Snead OC.
    Brain Res; 2006 May 23; 1090(1):15-22. PubMed ID: 16647690
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  • 10. Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.
    Gibson KM, Jakobs C, Ogier H, Hagenfeldt L, Eeg-Olofsson KE, Eeg-Olofsson O, Aksu F, Weber HP, Rossier E, Vollmer B.
    J Inherit Metab Dis; 1995 May 23; 18(2):143-6. PubMed ID: 7564230
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  • 11. 4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
    Uziel G, Bardelli P, Pantaleoni C, Rimoldi M, Savoiardo M.
    J Inherit Metab Dis; 1993 May 23; 16(3):520-2. PubMed ID: 7609441
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  • 12. GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants.
    Fait A, Yellin A, Fromm H.
    FEBS Lett; 2005 Jan 17; 579(2):415-20. PubMed ID: 15642352
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  • 14. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
    Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC, Smit LM, Jakobs C.
    Biol Psychiatry; 2003 Oct 01; 54(7):763-8. PubMed ID: 14512218
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  • 15. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
    Sauer SW, Kölker S, Hoffmann GF, Ten Brink HJ, Jakobs C, Gibson KM, Okun JG.
    Neurochem Int; 2007 Mar 01; 50(4):653-9. PubMed ID: 17303287
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  • 17. 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.
    Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM.
    J Inherit Metab Dis; 2007 Jun 01; 30(3):279-94. PubMed ID: 17457693
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  • 19. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
    Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, Munnich A.
    Dev Med Child Neurol; 2004 Aug 01; 46(8):564-8. PubMed ID: 15287248
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