BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 34062805)

  • 1.
    Christen M; Janzen N; Fraser A; Sewell AC; Jagannathan V; Guevar J; Leeb T; Sanchez-Masian D
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34062805
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.
    Christen M; Gonzalo-Nadal V; Kaczmarska A; Dyrka M; Guevar J; Jagannathan V; Leeb T; Gutierrez-Quintana R
    J Vet Intern Med; 2023 Mar; 37(2):676-680. PubMed ID: 36880414
    [TBL] [Abstract][Full Text] [Related]  

  • 3. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
    Sanchez-Masian DF; Artuch R; Mascort J; Jakobs C; Salomons G; Zamora A; Casado M; Fernandez M; Recio A; Lujan A
    J Am Anim Hosp Assoc; 2012; 48(5):366-71. PubMed ID: 22843824
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.
    Farias FH; Zeng R; Johnson GS; Shelton GD; Paquette D; O'Brien DP
    BMC Vet Res; 2012 Jul; 8():124. PubMed ID: 22834903
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. [L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].
    Saifullina EV; Zakharova EY; Kurkina MV; Magzhanov RV; Gaisina EV; Zakirova EN
    Zh Nevrol Psikhiatr Im S S Korsakova; 2017; 117(4):81-85. PubMed ID: 28617386
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
    Rzem R; Achouri Y; Marbaix E; Schakman O; Wiame E; Marie S; Gailly P; Vincent MF; Veiga-da-Cunha M; Van Schaftingen E
    PLoS One; 2015; 10(3):e0119540. PubMed ID: 25763823
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat.
    Nye GJ; Major AC; Liebel FX
    JFMS Open Rep; 2019; 5(1):2055116919853898. PubMed ID: 31245020
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.
    Leal-Ortega R; Parra-Medina LE; González-Herrera LJ
    Tremor Other Hyperkinet Mov (N Y); 2024; 14():12. PubMed ID: 38464914
    [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. L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.
    Marcel C; Mallaret M; Lagha-Boukbiza O; Kremer S; Echaniz-Laguna A; Tranchant C
    Rev Neurol (Paris); 2012 Feb; 168(2):187-91. PubMed ID: 22030381
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.
    Tai H; Zhang Z
    BMC Neurol; 2015 Jul; 15():117. PubMed ID: 26208971
    [TBL] [Abstract][Full Text] [Related]  

  • 18. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
    Steenweg ME; Jakobs C; Errami A; van Dooren SJ; Adeva Bartolomé MT; Aerssens P; Augoustides-Savvapoulou P; Baric I; Baumann M; Bonafé L; Chabrol B; Clarke JT; Clayton P; Coker M; Cooper S; Falik-Zaccai T; Gorman M; Hahn A; Hasanoglu A; King MD; de Klerk HB; Korman SH; Lee C; Meldgaard Lund A; Mejaski-Bosnjak V; Pascual-Castroviejo I; Raadhyaksha A; Rootwelt T; Roubertie A; Ruiz-Falco ML; Scalais E; Schimmel U; Seijo-Martinez M; Suri M; Sykut-Cegielska J; Trefz FK; Uziel G; Valayannopoulos V; Vianey-Saban C; Vlaho S; Vodopiutz J; Wajner M; Walter J; Walter-Derbort C; Yapici Z; Zafeiriou DI; Spreeuwenberg MD; Celli J; den Dunnen JT; van der Knaap MS; Salomons GS
    Hum Mutat; 2010 Apr; 31(4):380-90. PubMed ID: 20052767
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.
    Bellad A; Holla VV; Kumari R; Kamble N; Yadav R; Pandey A; Pal PK; Muthusamy B
    Acta Neurol Belg; 2023 Dec; 123(6):2315-2323. PubMed ID: 37378753
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.
    Yang J; Chen X; Jin S; Ding J
    J Biol Chem; 2024 Jan; 300(1):105491. PubMed ID: 37995940
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.