These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 6536727)

  • 1. Succinic semialdehyde dehydrogenase deficiency.
    Gibson KM; Sweetman L; Nyhan WL; Rating D
    J Neurogenet; 1984 Sep; 1(3):213-8. PubMed ID: 6536727
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.
    Gibson KM; Sweetman L; Nyhan WL; Lenoir G; Divry P
    Eur J Pediatr; 1984 Sep; 142(4):257-9. PubMed ID: 6489377
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.
    Gibson KM; Jansen I; Sweetman L; Nyhan WL; Rating D; Jakobs C; Divry P
    J Inherit Metab Dis; 1984; 7 Suppl 1():95-6. PubMed ID: 6434853
    [No Abstract]   [Full Text] [Related]  

  • 5. Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts.
    Gibson KM; Sweetman L; Jansen I; Brown GK; Haan EA; Danks DM; Nyhan WL
    J Neurogenet; 1985 Apr; 2(2):111-22. PubMed ID: 4020531
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism.
    Divry P; Baltassat P; Rolland MO; Cotte J; Hermier M; Duran M; Wadman SK
    Clin Chim Acta; 1983 Apr; 129(3):303-9. PubMed ID: 6133657
    [No Abstract]   [Full Text] [Related]  

  • 7. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review.
    Rating D; Hanefeld F; Siemes H; Kneer J; Jakobs C; Hermier M; Divry P
    J Inherit Metab Dis; 1984; 7 Suppl 1():90-2. PubMed ID: 6434851
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings.
    Jakobs C; Kneer J; Rating D; Hanefeld F; Divry P; Hermier M
    J Inherit Metab Dis; 1984; 7 Suppl 1():92-4. PubMed ID: 6434852
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.
    Pitt JJ; Hawkins R; Cleary M; Eggington M; Thorburn DR; Warwick L
    J Inherit Metab Dis; 1997 Mar; 20(1):39-42. PubMed ID: 9061565
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.
    Brown GK; Cromby CH; Manning NJ; Pollitt RJ
    J Inherit Metab Dis; 1987; 10(4):367-75. PubMed ID: 3126356
    [TBL] [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; 133(1):33-42. PubMed ID: 6627675
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.
    Gibson KM; Hoffmann G; Nyhan WL; Aramaki S; Thompson JA; Goodman SI; Johnson DA; Fife RR
    Eur J Pediatr; 1988 Jun; 147(5):529-31. PubMed ID: 3409929
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
    Chambliss KL; Hinson DD; Trettel F; Malaspina P; Novelletto A; Jakobs C; Gibson KM
    Am J Hum Genet; 1998 Aug; 63(2):399-408. PubMed ID: 9683595
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.
    Jakobs C; Bojasch M; Mönch E; Rating D; Siemes H; Hanefeld F
    Clin Chim Acta; 1981 Apr; 111(2-3):169-78. PubMed ID: 7226548
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.