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 *

157 related articles for article (PubMed ID: 20304328)

  • 21. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of
    Brennenstuhl H; Didiasova M; Assmann B; Bertoldi M; Molla G; Jung-Klawitter S; Kuseyri Hübschmann O; Schröter J; Opladen T; Tikkanen R
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33203024
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. SSADH deficiency possibly associated with enzyme activity-reducing SNPs.
    Akiyama T; Osaka H; Shimbo H; Kuhara T; Shibata T; Kobayashi K; Kurosawa K; Yoshinaga H
    Brain Dev; 2016 Oct; 38(9):871-4. PubMed ID: 27056292
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
    Sauer SW; Kölker S; Hoffmann GF; Ten Brink HJ; Jakobs C; Gibson KM; Okun JG
    Neurochem Int; 2007 Mar; 50(4):653-9. PubMed ID: 17303287
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Novel mutations in two unrelated Italian patients with SSADH deficiency.
    Balzarini M; Rovelli V; Paci S; Rigoldi M; Sanna G; Pillai S; Asunis M; Parini R; Ciminelli BM; Malaspina P
    Metab Brain Dis; 2019 Oct; 34(5):1515-1518. PubMed ID: 31267348
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
    Tay CG; Ariffin H; Yap S; Rahmat K; Sthaneshwar P; Ong LC
    J Child Neurol; 2015 Jun; 30(7):927-31. PubMed ID: 25122112
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
    Escalera GI; Ferrer I; Marina LC; Sala PR; Salomons GS; Jakobs C; Pérez-Cerdá C
    An Pediatr (Barc); 2010 Feb; 72(2):128-32. PubMed ID: 20018576
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
    Leuzzi V; Di Sabato ML; Deodato F; Rizzo C; Boenzi S; Carducci C; Malaspina P; Liberanome C; Dionisi-Vici C
    Neurology; 2007 Apr; 68(16):1320-1. PubMed ID: 17438226
    [No Abstract]   [Full Text] [Related]  

  • 32. Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
    Jung R; Rauch A; Salomons GS; Verhoeven NM; Jakobs C; Michael Gibson K; Lachmann E; Sass JO; Trautmann U; Zweier C; Staatz G; Knerr I
    Mol Genet Metab; 2006 Jul; 88(3):256-60. PubMed ID: 16545979
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Succinic semialdehyde dehydrogenase deficiency in children and adults.
    Pearl PL; Novotny EJ; Acosta MT; Jakobs C; Gibson KM
    Ann Neurol; 2003; 54 Suppl 6():S73-80. PubMed ID: 12891657
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.
    Schreiber JM; Wiggs E; Cuento R; Norato G; Dustin IH; Rolinski R; Austermuehle A; Zhou X; Inati SK; Gibson KM; Pearl PL; Theodore WH
    J Child Neurol; 2021 Nov; 36(13-14):1189-1199. PubMed ID: 34015244
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
    Püttmann L; Stehr H; Garshasbi M; Hu H; Kahrizi K; Lipkowitz B; Jamali P; Tzschach A; Najmabadi H; Ropers HH; Musante L; Kuss AW
    Am J Med Genet A; 2013 Aug; 161A(8):1915-22. PubMed ID: 23825041
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
    Pearl PL; Gibson KM; Acosta MT; Vezina LG; Theodore WH; Rogawski MA; Novotny EJ; Gropman A; Conry JA; Berry GT; Tuchman M
    Neurology; 2003 May; 60(9):1413-7. PubMed ID: 12743223
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.
    Arnulf I; Konofal E; Gibson KM; Rabier D; Beauvais P; Derenne JP; Philippe A
    Sleep; 2005 Apr; 28(4):418-24. PubMed ID: 16171286
    [TBL] [Abstract][Full Text] [Related]  

  • 40. OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.
    Phakey S; Rego T; Gaillard F; Panetta J; Evans A; De Jong G; Walterfang M
    BMC Psychiatry; 2020 Aug; 20(1):395. PubMed ID: 32758201
    [TBL] [Abstract][Full Text] [Related]  

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