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 *

104 related articles for article (PubMed ID: 9686369)

  • 21. [Glutaric aciduria. 1 new case].
    Floret D; Divry P; Dingeon N; Monnet P
    Arch Fr Pediatr; 1979 May; 36(5):462-70. PubMed ID: 496539
    [TBL] [Abstract][Full Text] [Related]  

  • 22. L-2-hydroxyglutaric aciduria, a defect of metabolite repair.
    Rzem R; Vincent MF; Van Schaftingen E; Veiga-da-Cunha M
    J Inherit Metab Dis; 2007 Oct; 30(5):681-9. PubMed ID: 17603759
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Glutaric aciduria type I: unusual biochemical presentation.
    Campistol J; Ribes A; Alvarez L; Christensen E; Millington DS
    J Pediatr; 1992 Jul; 121(1):83-6. PubMed ID: 1625098
    [TBL] [Abstract][Full Text] [Related]  

  • 24. D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
    Gibson KM; Craigen W; Herman GE; Jakobs C
    J Inherit Metab Dis; 1993; 16(3):497-500. PubMed ID: 7609436
    [No Abstract]   [Full Text] [Related]  

  • 25. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
    Di Rosa G; Deodato F; Loupatty FJ; Rizzo C; Carrozzo R; Santorelli FM; Boenzi S; D'Amico A; Tozzi G; Bertini E; Maiorana A; Wanders RJ; Dionisi-Vici C
    J Inherit Metab Dis; 2006 Aug; 29(4):546-50. PubMed ID: 16736096
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
    Vilarinho L; Tafulo S; Sibilio M; Kok F; Fontana F; Diogo L; Venâncio M; Ferreira M; Nogueira C; Valongo C; Parenti G; Amorim A; Azevedo L
    J Hum Genet; 2010 Jan; 55(1):55-8. PubMed ID: 19911013
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
    Vilarinho L; Cardoso ML; Gaspar P; Barbot C; Azevedo L; Diogo L; Santos M; Carrilho I; Fineza I; Kok F; Chorão R; Alegria P; Martins E; Teixeira J; Cabral Fernandes H; Verhoeven NM; Salomons GS; Santorelli FM; Cabral P; Amorim A; Jakobs C
    Hum Mutat; 2005 Oct; 26(4):395-6. PubMed ID: 16134148
    [TBL] [Abstract][Full Text] [Related]  

  • 30. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.
    Fujitake J; Ishikawa Y; Fujii H; Nishimura K; Hayakawa K; Inoue F; Terada N; Okochi M; Tatsuoka Y
    J Neurol; 1999 May; 246(5):378-82. PubMed ID: 10399870
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Glutaric, 3-hydroxypropionic, and lactic aciduria with metabolic acidemia, following extensive small bowel resection.
    McCabe ER; Goodman SI; Fennessey PV; Miles BS; Wall M; Silverman A
    Biochem Med; 1982 Oct; 28(2):229-36. PubMed ID: 7181872
    [No Abstract]   [Full Text] [Related]  

  • 32. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
    Kranendijk M; Struys EA; Gibson KM; Wickenhagen WV; Abdenur JE; Buechner J; Christensen E; de Kremer RD; Errami A; Gissen P; Gradowska W; Hobson E; Islam L; Korman SH; Kurczynski T; Maranda B; Meli C; Rizzo C; Sansaricq C; Trefz FK; Webster R; Jakobs C; Salomons GS
    Hum Mutat; 2010 Mar; 31(3):279-83. PubMed ID: 20020533
    [TBL] [Abstract][Full Text] [Related]  

  • 33. L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.
    Jansen GA; Wanders RJ
    Biochim Biophys Acta; 1993 Nov; 1225(1):53-6. PubMed ID: 8241290
    [TBL] [Abstract][Full Text] [Related]  

  • 34. L-2-hydroxyglutaric aciduria presenting as migraine.
    Kossoff EH; Keswani SC; Raymond GV
    Neurology; 2001 Nov; 57(9):1731-2. PubMed ID: 11706127
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
    Duran M; Kamerling JP; Bakker HD; van Gennip AH; Wadman SK
    J Inherit Metab Dis; 1980; 3(4):109-12. PubMed ID: 6787330
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
    Carpente KH; Wilcken B; Christodoulou J; Thorburn DR
    J Inherit Metab Dis; 2000 Dec; 23(8):845-6. PubMed ID: 11196112
    [No Abstract]   [Full Text] [Related]  

  • 38. Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine.
    Rashed MS; AlAmoudi M; Aboul-Enein HY
    Biomed Chromatogr; 2000 Aug; 14(5):317-20. PubMed ID: 10960831
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [L-2-hydroxyglutaric aciduria, an error of metabolism].
    Van Schaftingen E
    Bull Mem Acad R Med Belg; 2007; 162(10-12):451-6; discussion 456-7. PubMed ID: 18557388
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Glutaric aciduria mediated by gut bacteria.
    Wendel U; Bakkeren J; de Jong J; Bongaerts G
    J Inherit Metab Dis; 1995; 18(3):358-9. PubMed ID: 7474906
    [No Abstract]   [Full Text] [Related]  

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