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 *

143 related articles for article (PubMed ID: 12829002)

  • 21. A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
    Kwok JS; Yuen CL; Law LK; Tang NL; Cherk SW; Yuen YP
    Pathology; 2012 Apr; 44(3):280-2. PubMed ID: 22437753
    [No Abstract]   [Full Text] [Related]  

  • 22. 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]  

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

  • 24. 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]  

  • 25. [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]  

  • 26. Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
    Kuhara T
    J Chromatogr B Biomed Sci Appl; 2001 Jul; 758(1):3-25. PubMed ID: 11482733
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. MRI findings in succinic semialdehyde dehydrogenase deficiency.
    Yalçinkaya C; Gibson KM; Gündüz E; Koçer N; Fiçicioğlu C; Küçükercan I
    Neuropediatrics; 2000 Feb; 31(1):45-6. PubMed ID: 10774997
    [No Abstract]   [Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

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

  • 34. Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.
    Lemes A; Blasi P; Gonzales G; Russi ME; Quadrelli R; Novelletto A; Malaspina P
    J Inherit Metab Dis; 2006 Aug; 29(4):587. PubMed ID: 16788854
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience.
    Hampe MH; Panaskar SN; Yadav AA; Ingale PW
    Clin Biochem; 2017 Feb; 50(3):121-126. PubMed ID: 27784639
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
    Dervent A; Gibson KM; Pearl PL; Salomons GS; Jakobs C; Yalcinkaya C
    Clin Neurophysiol; 2004 Jun; 115(6):1417-22. PubMed ID: 15134710
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. A unique mouse model for succinic semialdehyde dehydrogenase deficiency with implications for gamma hydroxybutyrate intoxication.
    Peters H
    Pharmacogenomics J; 2002; 2(1):3-4. PubMed ID: 11990378
    [No Abstract]   [Full Text] [Related]  

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

    [Previous]   [Next]    [New Search]
    of 8.