BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 9453028)

  • 21. 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]  

  • 22. [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].
    Martínez Granero MA; Garcia Pérez A; Martínez-Pardo M; Parra E
    Neurologia; 2005 Jun; 20(5):255-60. PubMed ID: 15954035
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
    Harting I; Neumaier-Probst E; Seitz A; Maier EM; Assmann B; Baric I; Troncoso M; Mühlhausen C; Zschocke J; Boy NP; Hoffmann GF; Garbade SF; Kölker S
    Brain; 2009 Jul; 132(Pt 7):1764-82. PubMed ID: 19433437
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
    Misra VK; Struys EA; O'brien W; Salomons GS; Glover T; Jakobs C; Innis JW
    Mol Genet Metab; 2005; 86(1-2):200-5. PubMed ID: 16081310
    [TBL] [Abstract][Full Text] [Related]  

  • 25. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
    Steenweg ME; Salomons GS; Yapici Z; Uziel G; Scalais E; Zafeiriou DI; Ruiz-Falco ML; Mejaski-Bosnjak V; Augoustides-Savvopoulou P; Wajner M; Walter J; Verhoeven-Duif NM; Struys EA; Jakobs C; van der Knaap MS
    Radiology; 2009 Jun; 251(3):856-65. PubMed ID: 19474378
    [TBL] [Abstract][Full Text] [Related]  

  • 26. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia.
    Hanefeld F; Kruse B; Bruhn H; Frahm J
    Pediatr Res; 1994 May; 35(5):614-6. PubMed ID: 8065847
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Glutaric aciduria type I. Clinical, biochemical and molecular findings in six patients in Venezuela].
    Mahfoud A; Domínguez CL; Rizzo C; García-Villoria J; Navarro-Sastre A; Ribes A
    Rev Neurol; 2007 May 16-31; 44(10):610-5. PubMed ID: 17523120
    [TBL] [Abstract][Full Text] [Related]  

  • 28. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.
    Barbot C; Fineza I; Diogo L; Maia M; Melo J; Guimarães A; Pires MM; Cardoso ML; Vilarinho L
    Brain Dev; 1997 Jun; 19(4):268-73. PubMed ID: 9187477
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.
    Merinero B; Pérez-Cerdá C; Font LM; Garcia MJ; Aparicio M; Lorenzo G; Martinez Pardo M; Garzo C; Martinez-Bermejo A; Pascual Castroviejo I
    Neuropediatrics; 1995 Oct; 26(5):238-42. PubMed ID: 8552212
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. L-2-Hydroxyglutaric aciduria: MRI in seven cases.
    D'Incerti L; Farina L; Moroni I; Uziel G; Savoiardo M
    Neuroradiology; 1998 Nov; 40(11):727-33. PubMed ID: 9860123
    [TBL] [Abstract][Full Text] [Related]  

  • 32. L-Glutaric acidemia: investigation of a patient and his family.
    Whelan DT; Hill R; Ryan ED; Spate M
    Pediatrics; 1979 Jan; 63(1):88-93. PubMed ID: 440804
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.
    Pérez-Dueñas B; De La Osa A; Capdevila A; Navarro-Sastre A; Leist A; Ribes A; García-Cazorla A; Serrano M; Pineda M; Campistol J
    Eur J Paediatr Neurol; 2009 Nov; 13(6):534-40. PubMed ID: 19167251
    [TBL] [Abstract][Full Text] [Related]  

  • 35. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
    Haliloglu G; Jobard F; Oguz KK; Anlar B; Akalan N; Coskun T; Sass JO; Fischer J; Topcu M
    Neuropediatrics; 2008 Apr; 39(2):119-22. PubMed ID: 18671189
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. L-2-Hydroxyglutaric aciduria presenting as status epilepticus.
    Zafeiriou DI; Sewell A; Savvopoulou-Augoustidou P; Gombakis N; Katzos G
    Brain Dev; 2001 Jul; 23(4):255-7. PubMed ID: 11377007
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.
    Gibson KM; ten Brink HJ; Schor DS; Kok RM; Bootsma AH; Hoffmann GF; Jakobs C
    Pediatr Res; 1993 Sep; 34(3):277-80. PubMed ID: 8134166
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
    Rzem R; Van Schaftingen E; Veiga-da-Cunha M
    Biochimie; 2006 Jan; 88(1):113-6. PubMed ID: 16005139
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.