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 *

117 related articles for article (PubMed ID: 2468820)

  • 1. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method.
    Wanders RJ; Schutgens RB; Zoeters BH
    J Inherit Metab Dis; 1988; 11(4):430. PubMed ID: 2468820
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. First trimester prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria.
    Chalmers RA; Mistry J; Penketh R; McFadyen IR
    J Inherit Metab Dis; 1989; 12 Suppl 2():283-5. PubMed ID: 2480477
    [No Abstract]   [Full Text] [Related]  

  • 4. 3-Hydroxy-3-methylglutaric aciduria.
    Greene CL; Cann HM; Robinson BH; Gibson KM; Sweetman L; Holm J; Nyhan WL
    J Neurogenet; 1984 Apr; 1(2):165-73. PubMed ID: 6085636
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.
    Wanders RJ; Schutgens RB; Zoeters PH
    Clin Chim Acta; 1988 Jan; 171(1):95-101. PubMed ID: 2450702
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography.
    Gibson KM; Sweetman L; Nyhan WL; Page TM; Greene C; Cann HM
    Clin Chim Acta; 1982 Dec; 126(2):171-81. PubMed ID: 6185253
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.
    Hammond J; Wilcken B
    J Inherit Metab Dis; 1984; 7 Suppl 2():117-8. PubMed ID: 6207381
    [No Abstract]   [Full Text] [Related]  

  • 8. Immunoblot detection of enzyme proteins of peroxisomal beta-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome.
    Shimozawa N; Suzuki Y; Orii T; Hashimoto T
    Prenat Diagn; 1988 May; 8(4):287-90. PubMed ID: 3041403
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.
    Dasouki M; Buchanan D; Mercer N; Gibson KM; Thoene J
    J Inherit Metab Dis; 1987; 10(2):142-6. PubMed ID: 2443756
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 3-Hydroxy-3-methylglutaric aciduria: a possible pitfall in diagnosis.
    Mills GA; Hill MA; Buchanan R; Corina DL; Walker V
    Clin Chim Acta; 1991 Dec; 204(1-3):131-6. PubMed ID: 1726424
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.
    Thompson GN; Chalmers RA; Halliday D
    Eur J Pediatr; 1990 Feb; 149(5):346-50. PubMed ID: 1690129
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Photodiode array detection for liquid chromatographic profiling of carboxylic acids in physiological fluids: 3-hydroxy-3-methylglutaric aciduria.
    Buchanan DN; Thoene JG
    Clin Chem; 1986 Jan; 32(1 Pt 1):169-71. PubMed ID: 2416490
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
    Brown BI; Brown DH
    Am J Hum Genet; 1989 Mar; 44(3):378-81. PubMed ID: 2521770
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
    Lehnert W; Scharf J; Wendel U
    Eur J Pediatr; 1985 Mar; 143(4):301-3. PubMed ID: 2580710
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. Diagnosing 3-hydroxy-3-methylglutaric aciduria.
    Wilkinson SP; Wysocki SJ; Hähnel R
    Clin Chem; 1986 Aug; 32(8):1615-6. PubMed ID: 2426013
    [No Abstract]   [Full Text] [Related]  

  • 19. [3-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child].
    Plöchl E; Bachmann C; Colombo JP; Gibson KM
    Klin Padiatr; 1990; 202(2):76-80. PubMed ID: 1691326
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.
    Thorburn DR; Thompson GN; Howells DW
    J Inherit Metab Dis; 1993; 16(6):942-9. PubMed ID: 8127070
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.