BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 26499347)

  • 41. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.
    Kim KJ; Pearl PL; Jensen K; Snead OC; Malaspina P; Jakobs C; Gibson KM
    Antioxid Redox Signal; 2011 Aug; 15(3):691-718. PubMed ID: 20973619
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
    Brown MN; Walters DC; Schmidt MA; Hill J; McConnell A; Jansen EEW; Salomons GS; Arning E; Bottiglieri T; Gibson KM; Roullet JB
    J Inherit Metab Dis; 2019 Sep; 42(5):1030-1039. PubMed ID: 31032972
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. 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]  

  • 45. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
    Jansen EE; Vogel KR; Salomons GS; Pearl PL; Roullet JB; Gibson KM
    J Inherit Metab Dis; 2016 Nov; 39(6):795-800. PubMed ID: 27686230
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
    Pop A; Smith DEC; Kirby T; Walters D; Gibson KM; Mahmoudi S; van Dooren SJM; Kanhai WA; Fernandez-Ojeda MR; Wever EJM; Koster J; Waterham HR; Grob B; Roos B; Wamelink MMC; Chen J; Natesan S; Salomons GS
    Mol Genet Metab; 2020 Jul; 130(3):172-178. PubMed ID: 32402538
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.
    Knerr I; Gibson KM; Jakobs C; Pearl PL
    CNS Spectr; 2008 Jul; 13(7):598-605. PubMed ID: 18622364
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
    Brown M; Ashcraft P; Arning E; Bottiglieri T; Roullet JB; Gibson KM
    Mol Genet Metab; 2019; 128(1-2):109-112. PubMed ID: 31345667
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency.
    Ziyeh S; Berlis A; Korinthenberg R; Spreer J; Schumacher M
    Pediatr Radiol; 2002 Aug; 32(8):598-600. PubMed ID: 12136353
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Age-related phenotype and biomarker changes in SSADH deficiency.
    DiBacco ML; Roullet JB; Kapur K; Brown MN; Walters DC; Gibson KM; Pearl PL
    Ann Clin Transl Neurol; 2019 Jan; 6(1):114-120. PubMed ID: 30656189
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
    Buzzi A; Wu Y; Frantseva MV; Perez Velazquez JL; Cortez MA; Liu CC; Shen LQ; Gibson KM; Snead OC
    Brain Res; 2006 May; 1090(1):15-22. PubMed ID: 16647690
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.
    Colijn MA
    Psychiatr Genet; 2020 Dec; 30(6):153-161. PubMed ID: 33165204
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency.
    Phakey S; Walterfang M
    Psychiatr Genet; 2021 Jun; 31(3):100-101. PubMed ID: 33953124
    [No Abstract]   [Full Text] [Related]  

  • 56. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
    Pearl PL; DiBacco ML; Papadelis C; Opladen T; Hanson E; Roullet JB; Gibson KM
    J Child Neurol; 2021 Nov; 36(13-14):1153-1161. PubMed ID: 33393837
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Neuropathology in succinic semialdehyde dehydrogenase deficiency.
    Knerr I; Gibson KM; Murdoch G; Salomons GS; Jakobs C; Combs S; Pearl PL
    Pediatr Neurol; 2010 Apr; 42(4):255-8. PubMed ID: 20304328
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.
    Lee HHC; McGinty GE; Pearl PL; Rotenberg A
    Int J Mol Sci; 2022 Feb; 23(5):. PubMed ID: 35269750
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations.
    Liu N; Kong XD; Kan QC; Shi HR; Wu QH; Zhuo ZH; Bai QL; Jiang M
    J Perinat Med; 2016 May; 44(4):441-51. PubMed ID: 25431891
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.