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 *

132 related articles for article (PubMed ID: 38955445)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.
    George J; Sandhya P; Sajitha KV; Sundaram S
    BMJ Case Rep; 2021 Jul; 14(7):. PubMed ID: 34330727
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. L-2-Hydroxyglutaric aciduria presenting with severe autistic features.
    Zafeiriou DI; Ververi A; Salomons GS; Vargiami E; Haas D; Papadopoulou V; Kontopoulos E; Jakobs C
    Brain Dev; 2008 Apr; 30(4):305-7. PubMed ID: 17981416
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [L-2-hydroxyglutaric aciduria: report on two cases].
    Wagner S; Vianey-Saban C; Salomons GS; Schmitt E; Feillet F
    Arch Pediatr; 2014 Jan; 21(1):78-85. PubMed ID: 24321868
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
    Ding S; Yajun E; He Y
    Acta Neurol Belg; 2024 Aug; 124(4):1233-1236. PubMed ID: 38703293
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16.
    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]  

  • 17. A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
    Muzammal M; Ali MZ; Brugger B; Blatterer J; Ahmad S; Taj S; Shah SK; Khan S; Enzinger C; Petek E; Wagner K; Khan MA; Windpassinger C
    Metab Brain Dis; 2022 Jan; 37(1):243-252. PubMed ID: 34719772
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Contribution of brain MRI in a patient diagnosed with 2-hydroxyglutaric aciduria.
    Işikay S; Carman KB
    BMJ Case Rep; 2013 Jun; 2013():. PubMed ID: 23784758
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.