BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 25431891)

  • 21. A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
    Lin CY; Weng WC; Lee WT
    J Child Neurol; 2015 Mar; 30(4):486-9. PubMed ID: 25246302
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
    Knerr I; Pearl PL; Bottiglieri T; Snead OC; Jakobs C; Gibson KM
    J Inherit Metab Dis; 2007 Jun; 30(3):279-94. PubMed ID: 17457693
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].
    Yan D; Xu X; Wang X; Zhang X; Zhi X; Wang H; Zhang Y; Shu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Feb; 39(2):216-221. PubMed ID: 35076924
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
    Akaboshi S; Hogema BM; Novelletto A; Malaspina P; Salomons GS; Maropoulos GD; Jakobs C; Grompe M; Gibson KM
    Hum Mutat; 2003 Dec; 22(6):442-50. PubMed ID: 14635103
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
    Didiášová M; Banning A; Brennenstuhl H; Jung-Klawitter S; Cinquemani C; Opladen T; Tikkanen R
    Cells; 2020 Feb; 9(2):. PubMed ID: 32093054
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
    Malaspina P; Roullet JB; Pearl PL; Ainslie GR; Vogel KR; Gibson KM
    Neurochem Int; 2016 Oct; 99():72-84. PubMed ID: 27311541
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease].
    Gahr M; Connemann BJ; Schönfeldt-Lecuona CJ; Freudenmann RW
    Fortschr Neurol Psychiatr; 2013 Mar; 81(3):154-61. PubMed ID: 23516105
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
    Zeiger WA; Sun LR; Bosemani T; Pearl PL; Stafstrom CE
    Pediatr Neurol; 2016 May; 58():113-5. PubMed ID: 27268762
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.
    Lee HHC; Pearl PL; Rotenberg A
    J Child Neurol; 2021 Nov; 36(13-14):1200-1209. PubMed ID: 33624531
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.
    Chen X; Peng M; Cai Y; Zhou C; Liu L
    BMC Neurosci; 2022 Dec; 23(1):77. PubMed ID: 36527006
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
    Vogel KR; Ainslie GR; Jansen EE; Salomons GS; Gibson KM
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):33-42. PubMed ID: 27760377
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.
    Di Rosa G; Malaspina P; Blasi P; Dionisi-Vici C; Rizzo C; Tortorella G; Crutchfield SR; Gibson KM
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1(Suppl 1):S201-5. PubMed ID: 19484191
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
    Tokatly Latzer I; Bertoldi M; Blau N; DiBacco ML; Elsea SH; García-Cazorla À; Gibson KM; Gropman AL; Hanson E; Hoffman C; Jeltsch K; Juliá-Palacios N; Knerr I; Lee HHC; Malaspina P; McConnell A; Opladen T; Oppebøen M; Rotenberg A; Walterfang M; Wang-Tso L; Wevers RA; Roullet JB; Pearl PL
    Mol Genet Metab; 2024 May; 142(1):108363. PubMed ID: 38452608
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.
    Afacan O; Yang E; Lin AP; Coello E; DiBacco ML; Pearl PL; Warfield SK; Consortium SDI
    J Child Neurol; 2021 Nov; 36(13-14):1162-1168. PubMed ID: 33557675
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
    Aoshima T; Kajita M; Sekido Y; Ishiguro Y; Tsuge I; Kimura M; Yamaguchi S; Watanabe K; Shimokata K; Niwa T
    Hum Hered; 2002; 53(1):42-4. PubMed ID: 11901270
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.