BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 6133033)

  • 1. Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.
    Baumgartner R; Giardini O; Cantani A; Sabetta G; Castro M
    J Inherit Metab Dis; 1982; 5(3):137-41. PubMed ID: 6133033
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital methylmalonic acidemia: a variant of the B12 'non-responsive' form with evidence for reduced affinity of methylmalonyl-CoA mutase for its B12-coenzyme.
    Baumgartner ER; Bachmann C; Wick H
    Enzyme; 1976; 21(6):553-67. PubMed ID: 12939
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin.
    Batshaw ML; Thomas GH; Cohen SR; Matalon R; Mahoney MJ
    J Inherit Metab Dis; 1984; 7(2):65-8. PubMed ID: 6434828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
    Wilcken B; Kilham HA; Faull K
    J Pediatr; 1977 Sep; 91(3):428-30. PubMed ID: 19569
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recent advances in the inherited methylmalonic acidemias.
    Mahoney MJ; Bick D
    Acta Paediatr Scand; 1987 Sep; 76(5):689-96. PubMed ID: 2889315
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Methylmalonic acidemia.
    Cohen JJ
    Kidney Int; 1979 Mar; 15(3):311-20. PubMed ID: 41966
    [No Abstract]   [Full Text] [Related]  

  • 7. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
    Kakinuma H; Ogura N; Ohtake A; Takayanagi M; Nakajima H; Kondo H; Terada H; Okuda K; Nomoto Y
    J Inherit Metab Dis; 1985; 8(3):151-2. PubMed ID: 2879965
    [No Abstract]   [Full Text] [Related]  

  • 8. Studies on cultured fibroblasts in a case of methylmalonic aciduria.
    Davidson JS; Lloyd A; Christianson A; Harley EH; Berger GM
    S Afr Med J; 1984 Feb; 65(7):257-60. PubMed ID: 6141644
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria.
    Linnell JC; Matthews DM; Mudd SH; Uhlendorf BW; Wise IJ
    Pediatr Res; 1976 Mar; 10(3):179-83. PubMed ID: 2896
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].
    Leupold D
    Klin Wochenschr; 1977 Jan; 55(2):57-63. PubMed ID: 319293
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data.
    Morrow G; Mahoney MJ; Mathews C; Lebowitz J
    Pediatr Res; 1975 Aug; 9(8):641-4. PubMed ID: 239382
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts.
    Morrow G; Revsin B; Clark R; Lebowitz J; Whelan DT
    Clin Chim Acta; 1978 Apr; 85(1):67-72. PubMed ID: 25730
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Benign methylmalonic aciduria.
    Ledley FD; Levy HL; Shih VE; Benjamin R; Mahoney MJ
    N Engl J Med; 1984 Oct; 311(16):1015-8. PubMed ID: 6148691
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
    Saudubray JM; Charpentier C; Coude FX; Ogier H; Pham Dinh D; Bartlett K; Gompertz D
    Arch Fr Pediatr; 1980; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
    Wilkemeyer MF; Crane AM; Ledley FD
    J Clin Invest; 1991 Mar; 87(3):915-8. PubMed ID: 1671869
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship.
    Giorgio AJ; Trowbridge M; Boone AW; Patten RS
    N Engl J Med; 1976 Aug; 295(6):310-3. PubMed ID: 6909
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?
    Mayatepek E; Hoffmann GF; Baumgartner R; Schulze A; Jakobs C; Trefz FK; Bremer HJ
    Eur J Pediatr; 1996 May; 155(5):398-403. PubMed ID: 8741039
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts.
    Willard HF; Rosenberg LE
    Biochem Genet; 1979 Feb; 17(1-2):57-75. PubMed ID: 36882
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Carnitine in the treatment of methylmalonic aciduria (MMA)].
    Penn D; Schmidt H; Otten A; Schmidt-Sommerfeld E
    Monatsschr Kinderheilkd; 1986 Oct; 134(10):758-61. PubMed ID: 2879226
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.
    Whelan DT; Ryan E; Spate M; Morris M; Hurley RM; Hill R
    Can Med Assoc J; 1979 May; 120(10):1230-5. PubMed ID: 36217
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.