BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 20859647)

  • 1. Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
    Mazzei R; Ungaro C; Garreffa G; Conforti FL; Mollo A; Sprovieri T; Servillo P; Blasi V; Gallo O; Cerasa A; Lanza PL; Quattrone A
    Neurol Sci; 2011 Feb; 32(1):95-9. PubMed ID: 20859647
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.
    Peng W; Ma XW; Yang X; Zhang WQ; Yan L; Wang YX; Liu X; Wang Y; Feng ZC
    BMC Med Genet; 2018 Sep; 19(1):167. PubMed ID: 30217188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
    Kranendijk M; Salomons GS; Gibson KM; Aktuglu-Zeybek C; Bekri S; Christensen E; Clarke J; Hahn A; Korman SH; Mejaski-Bosnjak V; Superti-Furga A; Vianey-Saban C; van der Knaap MS; Jakobs C; Struys EA
    J Inherit Metab Dis; 2009 Dec; 32(6):713. PubMed ID: 19821142
    [TBL] [Abstract][Full Text] [Related]  

  • 4. L-2-Hydroxyglutaric aciduria: a case report.
    Jović NJ; Kosać A; Koprivsek K
    Srp Arh Celok Lek; 2014; 142(5-6):337-41. PubMed ID: 25033591
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria.
    Balaji P; Viswanathan V; Chellathurai A; Panigrahi D
    Ann Indian Acad Neurol; 2014 Jan; 17(1):97-9. PubMed ID: 24753671
    [TBL] [Abstract][Full Text] [Related]  

  • 6. L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.
    Fayed AI; Mohamed MT; Abed E; Meshref M; Ali Mahmoud A
    Neurocase; 2024 Apr; 30(2):77-82. PubMed ID: 38795053
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel homozygous missense mutation in L-2-HGA gene: A case report.
    Liu Y; Wu Z; Wang W; Han H; Wang Y; Wang T
    Clin Neurol Neurosurg; 2023 Feb; 225():107529. PubMed ID: 36610237
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Osteoma of the calvaria in L-2-hydroxyglutaric aciduria.
    Larnaout A; Amouri R; Neji S; Zouari M; Kaabachi N; Hentati F
    J Inherit Metab Dis; 2007 Nov; 30(6):980. PubMed ID: 17917788
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Progress in understanding 2-hydroxyglutaric acidurias.
    Kranendijk M; Struys EA; Salomons GS; Van der Knaap MS; Jakobs C
    J Inherit Metab Dis; 2012 Jul; 35(4):571-87. PubMed ID: 22391998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.
    Yamamoto T; Yoshioka S; Tsurusaki Y; Shino S; Shimojima K; Shigematsu Y; Takeuchi Y; Matsumoto N
    Brain Dev; 2016 Jan; 38(1):142-4. PubMed ID: 25982940
    [TBL] [Abstract][Full Text] [Related]  

  • 11. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
    Struys EA
    J Inherit Metab Dis; 2006 Feb; 29(1):21-9. PubMed ID: 16601864
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
    Faiyaz-Ul-Haque M; Al-Sayed MD; Faqeih E; Jamil M; Saeed A; Amoudi MS; Kaya N; Abalkhail H; Al-Abdullatif A; Rashed M; Al-Owain M; Peltekova I; Zaidi SH
    Ann Saudi Med; 2014; 34(2):107-14. PubMed ID: 24894778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [D-2-hydroxyglutaric aciduria. Report of two cases].
    Mahfoud A; Domínguez CL; Rashed M; Durán M; Rodríguez T; Rodríguez D; Landa V
    Invest Clin; 2009 Sep; 50(3):369-75. PubMed ID: 19961059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
    Sass JO; Jobard F; Topçu M; Mahfoud A; Werlé E; Cure S; Al-Sannaa N; Alshahwan SA; Bataillard M; Cimbalistiene L; Grolik C; Kemmerich V; Omran H; Sztriha L; Tabache M; Fischer J
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S275-9. PubMed ID: 18415700
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
    AlBalawy S; Ul Islam SS; Tasbahji N
    Saudi Med J; 2024 Jul; 45(7):745-748. PubMed ID: 38955445
    [TBL] [Abstract][Full Text] [Related]  

  • 16. D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
    Korman SH; Salomons GS; Gutman A; Brooks R; Jakobs C
    Neuropediatrics; 2004 Jun; 35(3):151-6. PubMed ID: 15248096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
    Pop A; Struys EA; Jansen EEW; Fernandez MR; Kanhai WA; van Dooren SJM; Ozturk S; van Oostendorp J; Lennertz P; Kranendijk M; van der Knaap MS; Gibson KM; van Schaftingen E; Salomons GS
    Hum Mutat; 2019 Jul; 40(7):975-982. PubMed ID: 30908763
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
    Pop A; Williams M; Struys EA; Monné M; Jansen EEW; De Grassi A; Kanhai WA; Scarcia P; Ojeda MRF; Porcelli V; van Dooren SJM; Lennertz P; Nota B; Abdenur JE; Coman D; Das AM; El-Gharbawy A; Nuoffer JM; Polic B; Santer R; Weinhold N; Zuccarelli B; Palmieri F; Palmieri L; Salomons GS
    J Inherit Metab Dis; 2018 Mar; 41(2):169-180. PubMed ID: 29238895
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.
    Rodrigues DGB; de Moura Coelho D; Sitta Â; Jacques CED; Hauschild T; Manfredini V; Bakkali A; Struys EA; Jakobs C; Wajner M; Vargas CR
    Toxicol In Vitro; 2017 Aug; 42():47-53. PubMed ID: 28396261
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
    Zhang Y; Wang C; Yang K; Wang S; Tian G; Chen Y
    Neurol Sci; 2018 Oct; 39(10):1697-1703. PubMed ID: 29980873
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.