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 *

107 related articles for article (PubMed ID: 38955445)

  • 41. L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
    Gökçen C; Isikay S; Yilmaz K
    BMJ Case Rep; 2013 Jun; 2013():. PubMed ID: 23749824
    [TBL] [Abstract][Full Text] [Related]  

  • 42. 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]  

  • 43. Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.
    Zübarioğlu T; Yalçınkaya C; Oruç Ç; Kıykım E; Cansever MŞ; Gezdirici A; Yeşil G; Enver EÖ; Zeybek ÇA
    Turk Pediatri Ars; 2020; 55(3):290-298. PubMed ID: 33061758
    [TBL] [Abstract][Full Text] [Related]  

  • 44. L-2 hydroxyglutaric aciduria presenting with status epilepticus.
    Işikay S
    BMJ Case Rep; 2013 Jun; 2013():. PubMed ID: 23749865
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria.
    Patay Z; Orr BA; Shulkin BL; Hwang SN; Ying Y; Broniscer A; Boop FA; Ellison DW
    J Inherit Metab Dis; 2015 Mar; 38(2):273-7. PubMed ID: 25338511
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model.
    Penderis J; Calvin J; Abramson C; Jakobs C; Pettitt L; Binns MM; Verhoeven NM; O'Driscoll E; Platt SR; Mellersh CS
    J Med Genet; 2007 May; 44(5):334-40. PubMed ID: 17475916
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.
    Alamri A; Breitbart S; Warsi N; Rayco E; Ibrahim G; Fasano A; Gorodetsky C
    Stereotact Funct Neurosurg; 2024; 102(4):209-216. PubMed ID: 38714179
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
    Deng Y; Tang G; Wen P; Wang G; Zhao C; Chen Z; Zhang X; Liu X; Cui D; Li C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):48-52. PubMed ID: 26829733
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.
    Olgac A; Tekin OL; Ezgü FS; Biberoǧlu G; Tümer L
    Balkan J Med Genet; 2019 Dec; 22(2):93-96. PubMed ID: 31942424
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.
    Thirumal Kumar D; Jerushah Emerald L; George Priya Doss C; Sneha P; Siva R; Charles Emmanuel Jebaraj W; Zayed H
    Metab Brain Dis; 2018 Oct; 33(5):1699-1710. PubMed ID: 29987523
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
    Struys EA; Verhoeven NM; Roos B; Jakobs C
    Clin Chem; 2003 Jul; 49(7):1133-8. PubMed ID: 12816910
    [TBL] [Abstract][Full Text] [Related]  

  • 53. L-2-hydroxyglutaric aciduria: report of two Indian families.
    Kamate M; Prashanth GP; Hattiholi V
    Indian J Pediatr; 2014 Mar; 81(3):296-8. PubMed ID: 24037495
    [TBL] [Abstract][Full Text] [Related]  

  • 54. L-2-hydroxyglutaric aciduria: report of four Turkish adult patients.
    Karatas H; Saygi S; Bastan B; Eker A; Kursun O; Ayhan Y; Ciger A
    Neurologist; 2010 Jan; 16(1):44-6. PubMed ID: 20065797
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.
    Dilber B; Havalı C; Eroglu N; Aydın K; Şahin S; Cansu A
    Childs Nerv Syst; 2020 Jul; 36(7):1545-1548. PubMed ID: 31858216
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.
    Mete A; Isikay S; Sirikci A; Ozkur A; Bayram M
    Pediatr Neurol; 2012 Mar; 46(3):195-7. PubMed ID: 22353300
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
    Jellouli NK; Hadj Salem I; Ellouz E; Kamoun Z; kamoun F; tlili A; Kaabachi N; Triki C; Fakhfakh F;
    J Hum Genet; 2014 Apr; 59(4):216-22. PubMed ID: 24573090
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
    Wickenhagen WV; Salomons GS; Gibson KM; Jakobs C; Struys EA
    J Inherit Metab Dis; 2009 Apr; 32(2):264-8. PubMed ID: 19283509
    [TBL] [Abstract][Full Text] [Related]  

  • 59. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
    Topçu M; Jobard F; Halliez S; Coskun T; Yalçinkayal C; Gerceker FO; Wanders RJ; Prud'homme JF; Lathrop M; Ozguc M; Fischer J
    Hum Mol Genet; 2004 Nov; 13(22):2803-11. PubMed ID: 15385440
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report.
    Periasamy V; Rudwan M; Yadav G; Khan RA
    Med Princ Pract; 2008; 17(3):258-61. PubMed ID: 18408399
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.