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 *

204 related articles for article (PubMed ID: 33557675)

  • 1. 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]  

  • 2. Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
    Wang P; Cai F; Cao L; Wang Y; Zou Q; Zhao P; Wang C; Zhang Y; Cai C; Shu J
    BMC Med Genet; 2019 May; 20(1):88. PubMed ID: 31117962
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.
    Wang KY; Barker PB; Lin DD
    Childs Nerv Syst; 2016 Jul; 32(7):1305-9. PubMed ID: 26499347
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
    Li X; Ding Y; Liu Y; Zhang Y; Song J; Wang Q; Li M; Qin Y; Huang S; Yang Y
    Gene; 2015 Dec; 574(1):41-7. PubMed ID: 26220405
    [TBL] [Abstract][Full Text] [Related]  

  • 7. GABAB-ergic motor cortex dysfunction in SSADH deficiency.
    Reis J; Cohen LG; Pearl PL; Fritsch B; Jung NH; Dustin I; Theodore WH
    Neurology; 2012 Jul; 79(1):47-54. PubMed ID: 22722631
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
    Ethofer T; Seeger U; Klose U; Erb M; Kardatzki B; Kraft E; Landwehrmeyer GB; Grodd W; Storch A
    Neurology; 2004 Mar; 62(6):1016-8. PubMed ID: 15037717
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Missense Variant in
    Vernau KM; Struys E; Letko A; Woolard KD; Aguilar M; Brown EA; Cissell DD; Dickinson PJ; Shelton GD; Broome MR; Gibson KM; Pearl PL; König F; Van Winkle TJ; O'Brien D; Roos B; Matiasek K; Jagannathan V; Drögemüller C; Mansour TA; Brown CT; Bannasch DL
    Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887425
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
    Brown M; Ashcraft P; Arning E; Bottiglieri T; McClintock W; Giancola F; Lieberman D; Hauser NS; Miller R; Roullet JB; Pearl P; Gibson KM
    Mol Genet Genomic Med; 2019 May; 7(5):e629. PubMed ID: 30829465
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1
    Brown M; Turgeon C; Rinaldo P; Roullet JB; Gibson KM
    Mol Genet Metab; 2019 Dec; 128(4):397-408. PubMed ID: 31699650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
    Menduti G; Biamino E; Vittorini R; Vesco S; Puccinelli MP; Porta F; Capo C; Leo S; Ciminelli BM; Iacovelli F; Spada M; Falconi M; Malaspina P; Rossi L
    Mol Genet Metab; 2018 Jul; 124(3):210-215. PubMed ID: 29895405
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical aspects of the disorders of GABA metabolism in children.
    Pearl PL; Gibson KM
    Curr Opin Neurol; 2004 Apr; 17(2):107-13. PubMed ID: 15021235
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
    Pearl PL; Gibson KM; Quezado Z; Dustin I; Taylor J; Trzcinski S; Schreiber J; Forester K; Reeves-Tyer P; Liew C; Shamim S; Herscovitch P; Carson R; Butman J; Jakobs C; Theodore W
    Neurology; 2009 Aug; 73(6):423-9. PubMed ID: 19667317
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
    Vogel KR; Ainslie GR; McConnell A; Roullet JB; Gibson KM
    Toxicol In Vitro; 2018 Feb; 46():203-212. PubMed ID: 29031482
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.