BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 15016427)

  • 21. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.
    Gibson KM; Jakobs C; Pearl PL; Snead OC
    IUBMB Life; 2005 Sep; 57(9):639-44. PubMed ID: 16203683
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).
    Gupta M; Greven R; Jansen EE; Jakobs C; Hogema BM; Froestl W; Snead OC; Bartels H; Grompe M; Gibson KM
    J Pharmacol Exp Ther; 2002 Jul; 302(1):180-7. PubMed ID: 12065715
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Canavan disease: a monogenic trait with complex genomic interaction.
    Surendran S; Michals-Matalon K; Quast MJ; Tyring SK; Wei J; Ezell EL; Matalon R
    Mol Genet Metab; 2003; 80(1-2):74-80. PubMed ID: 14567959
    [TBL] [Abstract][Full Text] [Related]  

  • 24. GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants.
    Fait A; Yellin A; Fromm H
    FEBS Lett; 2005 Jan; 579(2):415-20. PubMed ID: 15642352
    [TBL] [Abstract][Full Text] [Related]  

  • 25. GABA, gamma-hydroxybutyric acid, and neurological disease.
    Wong CG; Bottiglieri T; Snead OC
    Ann Neurol; 2003; 54 Suppl 6():S3-12. PubMed ID: 12891648
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase.
    Gibson KM; Schor DS; Gupta M; Guerand WS; Senephansiri H; Burlingame TG; Bartels H; Hogema BM; Bottiglieri T; Froestl W; Snead OC; Grompe M; Jakobs C
    J Neurochem; 2002 Apr; 81(1):71-9. PubMed ID: 12067239
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
    Surendran S; Matalon KM; Szucs S; Tyring SK; Matalon R
    J Child Neurol; 2003 Sep; 18(9):611-5. PubMed ID: 14572139
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
    Bekri S; Fossoud C; Plaza G; Guenne A; Salomons GS; Jakobs C; Van Obberghen E
    Mol Genet Metab; 2004 Apr; 81(4):347-51. PubMed ID: 15059623
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular basis of Canavan's disease: from human to mouse.
    Surendran S; Matalon KM; Tyring SK; Matalon R
    J Child Neurol; 2003 Sep; 18(9):604-10. PubMed ID: 14572138
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
    Hogema BM; Akaboshi S; Taylor M; Salomons GS; Jakobs C; Schutgens RB; Wilcken B; Worthington S; Maropoulos G; Grompe M; Gibson KM
    Mol Genet Metab; 2001 Mar; 72(3):218-22. PubMed ID: 11243727
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Ontogeny of GABA pathway in human fetal brains.
    Das SK; Ray PK
    Biochem Biophys Res Commun; 1996 Nov; 228(2):544-8. PubMed ID: 8920949
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
    Pearl PL; Gibson KM; Acosta MT; Vezina LG; Theodore WH; Rogawski MA; Novotny EJ; Gropman A; Conry JA; Berry GT; Tuchman M
    Neurology; 2003 May; 60(9):1413-7. PubMed ID: 12743223
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
    Gupta M; Jansen EE; Senephansiri H; Jakobs C; Snead OC; Grompe M; Gibson KM
    Mol Ther; 2004 Apr; 9(4):527-39. PubMed ID: 15093183
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
    Ergezinger K; Jeschke R; Frauendienst-Egger G; Korall H; Gibson KM; Schuster VH
    Ann Neurol; 2003 Nov; 54(5):686-9. PubMed ID: 14595661
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
    Ethofer T; Seeger U; Klose U; Erb M; Kardatzki B; Kraft E; Landwehrmeyer GB; Grodd W; Storch A
    Neurology; 2004 Mar; 62(6):1016-8. PubMed ID: 15037717
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
    Matern D; Lehnert W; Gibson KM; Korinthenberg R
    J Inherit Metab Dis; 1996; 19(3):313-8. PubMed ID: 8803774
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Succinic semialdehyde dehydrogenase deficiency].
    Deng XL; Yin F; Xiang QL; Liu CT; Peng J
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Sep; 13(9):740-2. PubMed ID: 21924025
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.
    Pearl PL; Gropman A
    Ann Neurol; 2004 Apr; 55(4):599; author reply 599. PubMed ID: 15048909
    [No Abstract]   [Full Text] [Related]  

  • 40. Canavan disease and the role of N-acetylaspartate in myelin synthesis.
    Namboodiri AM; Peethambaran A; Mathew R; Sambhu PA; Hershfield J; Moffett JR; Madhavarao CN
    Mol Cell Endocrinol; 2006 Jun; 252(1-2):216-23. PubMed ID: 16647192
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.