BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 1331607)

  • 21. Allogeneic bone marrow transplantation in mevalonic aciduria.
    Neven B; Valayannopoulos V; Quartier P; Blanche S; Prieur AM; Debré M; Rolland MO; Rabier D; Cuisset L; Cavazzana-Calvo M; de Lonlay P; Fischer A
    N Engl J Med; 2007 Jun; 356(26):2700-3. PubMed ID: 17596604
    [TBL] [Abstract][Full Text] [Related]  

  • 22. First-trimester prenatal diagnosis of Tay-Sachs disease.
    Grabowski GA; Kruse JR; Goldberg JD; Chockkalingam K; Gordon RE; Blakemore KJ; Mahoney MJ; Desnick RJ
    Am J Hum Genet; 1984 Nov; 36(6):1369-78. PubMed ID: 6240199
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mevalonate kinase deficiency and autoinflammatory disorders.
    Haas D; Hoffmann GF
    N Engl J Med; 2007 Jun; 356(26):2671-3. PubMed ID: 17596600
    [No Abstract]   [Full Text] [Related]  

  • 24. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
    Gibson KM; Hoffmann G; Schwall A; Broock RL; Aramaki S; Sweetman L; Nyhan WL; Brandt IK; Wappner RS; Lehnert W
    J Lipid Res; 1990 Mar; 31(3):515-21. PubMed ID: 2160511
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Chorionic villi sampling: a new technique for detection of genetic abnormalities in the first trimester.
    Cadkin AV; Ginsberg NA; Pergament E; Verlinski Y
    Radiology; 1984 Apr; 151(1):159-62. PubMed ID: 6701308
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prenatal diagnosis of I-cell disease in the first and second trimesters.
    Parvathy MR; Mitchell DA; Ben-Yoseph Y
    Am J Med Sci; 1989 Jun; 297(6):361-4. PubMed ID: 2544090
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
    Hinson DD; Chambliss KL; Hoffmann GF; Krisans S; Keller RK; Gibson KM
    J Biol Chem; 1997 Oct; 272(42):26756-60. PubMed ID: 9334262
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Lysosomal enzyme activities in frozen, non-cultured chorionic villi for prenatal diagnosis of enzymopathies.
    Németh M; László A; Kovács A; Falkay G
    Acta Med Hung; 1992-1993; 49(1-2):143-8. PubMed ID: 1363580
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Aryl sulphatase isoenzymes of chorionic villi: implications for prenatal diagnosis.
    Giles L; Cooper A; Fowler B; Sardharwalla IB; Donnai P
    Prenat Diagn; 1987 May; 7(4):245-52. PubMed ID: 2884655
    [TBL] [Abstract][Full Text] [Related]  

  • 30. First trimester diagnosis of inherited metabolic disease: experience in the UK.
    Besley GT; Young EP; Fensom AH; Cooper A
    J Inherit Metab Dis; 1991; 14(2):128-33. PubMed ID: 1886402
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
    Hinson DD; Rogers ZR; Hoffmann GF; Schachtele M; Fingerhut R; Kohlschutter A; Kelley RI; Gibson KM
    Am J Med Genet; 1998 Aug; 78(5):408-12. PubMed ID: 9714005
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi.
    Patrick AD; Young E; Ellis C; Rodeck CH
    Prenat Diagn; 1988 May; 8(4):303-6. PubMed ID: 3399483
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.
    Mancini J; Philip N; Chabrol B; Divry P; Rolland MO; Pinsard N
    Pediatr Neurol; 1993; 9(3):243-6. PubMed ID: 8352861
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mevalonic acidemia: first case of Japan.
    Okamoto N; Nakayama M; Narahara C; Kim H; Fujioka M; Imada I; Arai T; Toda S
    Jpn J Hum Genet; 1997 Sep; 42(3):441-4. PubMed ID: 12503192
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
    Hübner C; Hoffmann GF; Charpentier C; Gibson KM; Finckh B; Puhl H; Lehr HA; Kohlschütter A
    Pediatr Res; 1993 Aug; 34(2):129-33. PubMed ID: 8233712
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Mevalonic aciduria: report of two cases.
    Bretón Martínez JR; Cánovas Martínez A; Casaña Pérez S; Escribá Alepuz J; Giménez Vázquez F
    J Inherit Metab Dis; 2007 Oct; 30(5):829. PubMed ID: 17578678
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mevalonic aciduria.
    Kozich V; Gibson KM; Zeman J; Nĕmecek J; Hoffman GF; Pehal F; Hyánek J; Grosmanová A; Verner P
    J Inherit Metab Dis; 1991; 14(2):265-6. PubMed ID: 1653382
    [No Abstract]   [Full Text] [Related]  

  • 39. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
    Haas D; Hoffmann GF
    Orphanet J Rare Dis; 2006 Apr; 1():13. PubMed ID: 16722536
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
    Reitzle L; Maier B; Stojanov S; Teupser D; Muntau AC; Vogeser M; Gersting SW
    Clin Biochem; 2015 Aug; 48(12):781-7. PubMed ID: 25982894
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.