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Journal Abstract Search

146 related items for PubMed ID: 7541876

  • 1. Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.
    Kok RM, Howells DW, van den Heuvel CC, Guérand WS, Thompson GN, Jakobs C.
    J Inherit Metab Dis; 1993; 16(3):508-12. PubMed ID: 7541876
    [No Abstract] [Full Text] [Related]

  • 2. 4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
    Uziel G, Bardelli P, Pantaleoni C, Rimoldi M, Savoiardo M.
    J Inherit Metab Dis; 1993; 16(3):520-2. PubMed ID: 7609441
    [No Abstract] [Full Text] [Related]

  • 3. 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; 18(2):143-6. PubMed ID: 7564230
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.
    Gropman A.
    Ann Neurol; 2003 Feb; 54 Suppl 6():S66-72. PubMed ID: 12891656
    [Abstract] [Full Text] [Related]

  • 6. 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 Feb; 19(3):313-8. PubMed ID: 8803774
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 10. Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.
    Horvath GA, Hukin J, Stockler-Ipsiroglu SG, Aroichane M.
    Neuropediatrics; 2016 Aug; 47(4):263-7. PubMed ID: 27104484
    [Abstract] [Full Text] [Related]

  • 11. Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.
    Shinka T, Ohfu M, Hirose S, Kuhara T.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2003 Jul 15; 792(1):99-106. PubMed ID: 12829002
    [Abstract] [Full Text] [Related]

  • 12. [A case of succinic semialdehyde dehydrogenase deficiency].
    Zhao XP, Liu GS, Song YZ.
    Zhonghua Er Ke Za Zhi; 2003 Sep 15; 41(9):719. PubMed ID: 14733828
    [No Abstract] [Full Text] [Related]

  • 13. Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.
    Jakobs C, Michael T, Jaeger E, Jaeken J, Gibson KM.
    Eur J Pediatr; 1992 Jun 15; 151(6):466. PubMed ID: 1628679
    [No Abstract] [Full Text] [Related]

  • 14. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
    Gibson KM, Sweetman L, Nyhan WL, Jakobs C, Rating D, Siemes H, Hanefeld F.
    Clin Chim Acta; 1983 Sep 15; 133(1):33-42. PubMed ID: 6627675
    [Abstract] [Full Text] [Related]

  • 15. The first case of 4-hydroxybutyric aciduria in Japan.
    Ishiguro Y, Kajita M, Aoshima T, Watanabe K, Kimura M, Yamaguchi S.
    Brain Dev; 2001 Mar 15; 23(2):128-30. PubMed ID: 11248463
    [Abstract] [Full Text] [Related]

  • 16. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
    Gordon N.
    Eur J Paediatr Neurol; 2004 Mar 15; 8(5):261-5. PubMed ID: 15341910
    [Abstract] [Full Text] [Related]

  • 17. Inherited disorders of GABA metabolism.
    Jakobs C, Jaeken J, Gibson KM.
    J Inherit Metab Dis; 1993 Mar 15; 16(4):704-15. PubMed ID: 8412016
    [Abstract] [Full Text] [Related]

  • 18. Quantitation of γ-Aminobutyric Acid in Cerebrospinal Fluid Using Liquid Chromatography-Electrospray-Tandem Mass Spectrometry.
    Arning E, Wasek B, Bottiglieri T.
    Methods Mol Biol; 2022 Mar 15; 2546():165-174. PubMed ID: 36127587
    [Abstract] [Full Text] [Related]

  • 19. [4-Hydroxybutyric aciduria].
    Asai M, Wada Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar 15; (18 Pt 1):250-1. PubMed ID: 9590039
    [No Abstract] [Full Text] [Related]

  • 20. mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
    Vogel KR, Ainslie GR, Gibson KM.
    J Inherit Metab Dis; 2016 Nov 15; 39(6):877-886. PubMed ID: 27518770
    [Abstract] [Full Text] [Related]

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