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Journal Abstract Search

319 related items for PubMed ID: 16750411

  • 1. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
    Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT.
    Mol Genet Metab; 2006 Aug; 88(4):322-6. PubMed ID: 16750411
    [Abstract] [Full Text] [Related]

  • 2. Combined liver-kidney transplantation in methylmalonic acidemia.
    van 't Hoff WG, Dixon M, Taylor J, Mistry P, Rolles K, Rees L, Leonard JV.
    J Pediatr; 1998 Jun; 132(6):1043-4. PubMed ID: 9627602
    [Abstract] [Full Text] [Related]

  • 3. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
    Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R.
    Eur J Pediatr; 2002 Jul; 161(7):377-9. PubMed ID: 12111189
    [Abstract] [Full Text] [Related]

  • 4. Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
    Chen PW, Hwu WL, Ho MC, Lee NC, Chien YH, Ni YH, Lee PH.
    Pediatr Transplant; 2010 May; 14(3):337-41. PubMed ID: 19686300
    [Abstract] [Full Text] [Related]

  • 5. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
    Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.
    Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221
    [Abstract] [Full Text] [Related]

  • 6. [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
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  • 8. [Diagnosis and treatment of methylmalonic aciduria: a case report].
    Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.
    Invest Clin; 2007 Mar; 48(1):99-105. PubMed ID: 17432548
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  • 11. Current role of liver transplantation for methylmalonic acidemia: a review of the literature.
    Kasahara M, Horikawa R, Tagawa M, Uemoto S, Yokoyama S, Shibata Y, Kawano T, Kuroda T, Honna T, Tanaka K, Saeki M.
    Pediatr Transplant; 2006 Dec; 10(8):943-7. PubMed ID: 17096763
    [Abstract] [Full Text] [Related]

  • 12. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 13. Methylmalonic and propionic aciduria.
    Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C.
    Am J Med Genet C Semin Med Genet; 2006 May 15; 142C(2):104-12. PubMed ID: 16602092
    [Abstract] [Full Text] [Related]

  • 14. Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
    Spada M, Calvo PL, Brunati A, Peruzzi L, Dell'Olio D, Romagnoli R, Porta F.
    Pediatrics; 2015 Jul 15; 136(1):e252-6. PubMed ID: 26077484
    [Abstract] [Full Text] [Related]

  • 15. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
    Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.
    BMC Med Genet; 2007 Oct 15; 8():64. PubMed ID: 17937813
    [Abstract] [Full Text] [Related]

  • 16. Benign methylmalonic aciduria.
    Ledley FD, Levy HL, Shih VE, Benjamin R, Mahoney MJ.
    N Engl J Med; 1984 Oct 18; 311(16):1015-8. PubMed ID: 6148691
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  • 17. [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 Oct 18; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
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  • 18. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Oct 18; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 19. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb 18; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 20. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
    Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP.
    BMC Med Genet; 2007 Apr 30; 8():24. PubMed ID: 17470278
    [Abstract] [Full Text] [Related]

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