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 *

187 related articles for article (PubMed ID: 32758201)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.
    Yamakawa Y; Nakazawa T; Ishida A; Saito N; Komatsu M; Matsubara T; Obinata K; Hirose S; Okumura A; Shimizu T
    Brain Dev; 2012 Feb; 34(2):107-12. PubMed ID: 21612881
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Proceedings of the International SSADH Deficiency 2020 Conference.
    Pearl PL; DiBacco ML; Roullet JB; Gibson KM
    J Child Neurol; 2021 Nov; 36(13-14):1151-1152. PubMed ID: 34806467
    [No Abstract]   [Full Text] [Related]  

  • 27. [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]  

  • 28. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
    Leo S; Capo C; Ciminelli BM; Iacovelli F; Menduti G; Funghini S; Donati MA; Falconi M; Rossi L; Malaspina P
    Metab Brain Dis; 2017 Oct; 32(5):1383-1388. PubMed ID: 28664505
    [TBL] [Abstract][Full Text] [Related]  

  • 29. SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry.
    Bertini E; Gospe SM
    Neurology; 2015 Sep; 85(10):842-3. PubMed ID: 26268899
    [No Abstract]   [Full Text] [Related]  

  • 30. 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]  

  • 31. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.
    Ahmadi ZZ; DiBacco ML; Pearl PL
    J Child Neurol; 2021 Nov; 36(13-14):1210-1217. PubMed ID: 33757330
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
    Wamelink MM; Roos B; Jansen EE; Mulder MF; Gibson KM; Jakobs C
    Mol Genet Metab; 2011 Feb; 102(2):216-7. PubMed ID: 20965758
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency.
    Esposito S; Moscatelli M; Caccia C; Granocchio E; Pantaleoni C; Ardissone A; Gellera C; Farina L
    Neurology; 2020 Oct; 95(16):e2316-e2317. PubMed ID: 32680940
    [No Abstract]   [Full Text] [Related]  

  • 34. Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder.
    Gogou M; Spilioti M; Tramma D; Papadopoulou-Alataki E; Evangeliou A
    Indian J Pediatr; 2016 Sep; 83(9):1036-7. PubMed ID: 26806207
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
    Nylen K; Velazquez JL; Likhodii SS; Cortez MA; Shen L; Leshchenko Y; Adeli K; Gibson KM; Burnham WM; Snead OC
    Exp Neurol; 2008 Apr; 210(2):449-57. PubMed ID: 18199435
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.
    Didiasova M; Cesaro S; Feldhoff S; Bettin I; Tiegel N; Füssgen V; Bertoldi M; Tikkanen R
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791277
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
    Tokatly Latzer I; Roullet JB; Afshar-Saber W; Lee HHC; Bertoldi M; McGinty GE; DiBacco ML; Arning E; Tsuboyama M; Rotenberg A; Opladen T; Jeltsch K; García-Cazorla À; Juliá-Palacios N; Gibson KM; Sahin M; Pearl PL
    J Neurodev Disord; 2024 Apr; 16(1):21. PubMed ID: 38658850
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
    Struys EA; Verhoeven NM; Salomons GS; Berthelot J; Vianay-Saban C; Chabrier S; Thomas JA; Tsai AC; Gibson KM; Jakobs C
    Mol Genet Metab; 2006 May; 88(1):53-7. PubMed ID: 16442322
    [TBL] [Abstract][Full Text] [Related]  

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