BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 8464836)

  • 1. Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
    Jakobs C; Ogier H; Rabier D; Gibson KM
    Prenat Diagn; 1993 Feb; 13(2):150. PubMed ID: 8464836
    [No Abstract]   [Full Text] [Related]  

  • 2. Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
    Gibson KM; Baumann C; Ogier H; Rossier E; Vollmer B; Jakobs C
    J Inherit Metab Dis; 1994; 17(6):732-7. PubMed ID: 7707697
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
    Gibson KM; Goodman SI; Frerman FE; Glasgow AM
    J Pediatr; 1989 Apr; 114(4 Pt 1):607-10. PubMed ID: 2926573
    [No Abstract]   [Full Text] [Related]  

  • 4. Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria.
    Gibson KM; Sweetman L; Nyhan WL; Bowen P
    J Inherit Metab Dis; 1985; 8(2):58. PubMed ID: 3939531
    [No Abstract]   [Full Text] [Related]  

  • 5. Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
    Shinka T; Inoue Y; Ohse M; Ito A; Ohfu M; Hirose S; Kuhara T
    J Chromatogr B Analyt Technol Biomed Life Sci; 2002 Aug; 776(1):57-63. PubMed ID: 12127325
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

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

  • 8. 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]  

  • 9. Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
    Gibson KM; Doskey AE; Rabier D; Jakobs C; Morlat C
    J Inherit Metab Dis; 1997 Jul; 20(3):370-4. PubMed ID: 9266358
    [No Abstract]   [Full Text] [Related]  

  • 10. Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
    Aligianis IA; Farndon PA; Gray RG; Heath SK; Kilby M; Gibson KM; Akaboshi S
    J Inherit Metab Dis; 2002 Oct; 25(6):517-8. PubMed ID: 12555945
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.
    Thorburn DR; Thompson GN; Howells DW
    J Inherit Metab Dis; 1993; 16(6):942-9. PubMed ID: 8127070
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.
    Gibson KM; Lee CF; Chambliss KL; Kamali V; Francois B; Jaeken J; Jakobs C
    Clin Chim Acta; 1991 Feb; 196(2-3):219-21. PubMed ID: 2029787
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

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

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

  • 16. 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; 54(7):763-8. PubMed ID: 14512218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.
    Pattarelli PP; Nyhan WL; Gibson KM
    Pediatr Res; 1988 Oct; 24(4):455-60. PubMed ID: 3140205
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
    Wolf NI; Haas D; Hoffmann GF; Jakobs C; Salomons GS; Wevers RA; Engelke UF; Rating D
    J Inherit Metab Dis; 2004; 27(2):291-3. PubMed ID: 15243989
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
    Gibson KM; Sweetman L; Kozich V; Pijackova A; Tscharre A; Cortez A; Eyskens F; Jakobs C; Duran M; Poll-The BT
    J Inherit Metab Dis; 1998 Jun; 21(3):255-61. PubMed ID: 9686370
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.