BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 6112083)

  • 1. Potential prenatal diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
    Hähnel R; Wysocki SJ
    Clin Chim Acta; 1981 Apr; 111(2-3):287-8. PubMed ID: 6112083
    [No Abstract]   [Full Text] [Related]  

  • 2. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case.
    Shilkin R; Wilson G; Owles E
    Acta Paediatr Scand; 1981 Mar; 70(2):265-8. PubMed ID: 6112838
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency].
    Vilaseca Busca MA; Ribes Rubio A; Briones Godino P; Cusi Sánchez V; Baraíbar Castelló R; Gairi Taull JM
    An Esp Pediatr; 1990 Feb; 32(2):149-53. PubMed ID: 1971743
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency studied using 2-dimensional proton nuclear magnetic resonance spectroscopy.
    Iles RA; Jago JR; Williams SR; Chalmers RA
    FEBS Lett; 1986 Jul; 203(1):49-53. PubMed ID: 2424790
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Isolation and characterization of a mammalian cell mutant defective in 3-hydroxy-3-methylglutaryl coenzyme A synthase.
    Schnitzer-Polokoff R; von Gunten C; Logel J; Torget R; Sinensky M
    J Biol Chem; 1982 Jan; 257(1):472-6. PubMed ID: 6118375
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
    Mitchell GA; Jakobs C; Gibson KM; Robert MF; Burlina A; Dionisi-Vici C; Dallaire L
    Prenat Diagn; 1995 Aug; 15(8):725-9. PubMed ID: 7479590
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.
    Duran M; Schutgens RB; Ketel A; Heymans H; Bertssen MW; Ketting D; Wadman SK
    J Pediatr; 1979 Dec; 95(6):1004-7. PubMed ID: 91680
    [No Abstract]   [Full Text] [Related]  

  • 8. Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.
    Robinson BH; Oei J; Sherwood WG; Slyper AH; Heininger J; Mamer OA
    Neurology; 1980 Jul; 30(7 Pt 1):714-8. PubMed ID: 6156427
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
    Barash V; Elpeleg O; Sheffer R; Mandel H; Wanders RJ
    Prenat Diagn; 1988 Nov; 8(9):691. PubMed ID: 3211860
    [No Abstract]   [Full Text] [Related]  

  • 10. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
    Gibson KM; Breuer J; Nyhan WL
    Eur J Pediatr; 1988 Dec; 148(3):180-6. PubMed ID: 3063529
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.
    Kikuchi M; Narisawa K; Tada K; Sweetman L
    Clin Chim Acta; 1990 Aug; 189(3):297-301. PubMed ID: 2225461
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disorders of ketone production and utilization.
    Kayer MA
    Mol Genet Metab; 2006 Apr; 87(4):281-3. PubMed ID: 16622911
    [No Abstract]   [Full Text] [Related]  

  • 13. [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].
    Koling S; Kalhoff H; Schauerte P; Lehnert W; Diekmann L
    Klin Padiatr; 2000; 212(3):113-6. PubMed ID: 10916782
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
    Roe CR; Millington DS; Maltby DA
    J Clin Invest; 1986 Apr; 77(4):1391-4. PubMed ID: 3958190
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.
    Wysocki SJ; Hähnel R
    Clin Chim Acta; 1976 Sep; 71(2):349-51. PubMed ID: 963901
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.
    Duran M; Ketting D; Wadman SK; Jakobs C; Schutgens RB; Veder HA
    Clin Chim Acta; 1978 Dec; 90(2):187-93. PubMed ID: 719902
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
    Truscott RJ; Halpern B; Wysocki SJ; Hähnel R; Wilcken B
    Clin Chim Acta; 1979 Jul; 95(1):11-16. PubMed ID: 509721
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.
    Chalmers RA; Tracey BM; Mistry J; Stacey TE; McFadyen IR
    J Inherit Metab Dis; 1989; 12(3):286-92. PubMed ID: 2482386
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Localization of the gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A synthase to human chromosome 5.
    Leonard S; Arbogast D; Geyer D; Jones C; Sinensky M
    Proc Natl Acad Sci U S A; 1986 Apr; 83(7):2187-9. PubMed ID: 2870496
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A rare cause of hepatomegaly: 3-hydroxy-3-methylglutaryl coenzyme-a lyase deficiency.
    Urgançi N; Arapoğlu M; Evrüke M; Aydin A
    J Pediatr Gastroenterol Nutr; 2001 Sep; 33(3):339-41. PubMed ID: 11593134
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.