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Journal Abstract Search

124 related items for PubMed ID: 11462735

  • 1. [Acidemia, methylmalonic].
    Matsubara Y.
    Ryoikibetsu Shokogun Shirizu; 2001; (33):97-9. PubMed ID: 11462735
    [No Abstract] [Full Text] [Related]

  • 2. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 3. [Methylmalonic acidemia].
    Kawakami C, Tamai H.
    Ryoikibetsu Shokogun Shirizu; 2000; (32):358-61. PubMed ID: 11212744
    [No Abstract] [Full Text] [Related]

  • 4. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
    Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G.
    Pediatr Int; 2007 Apr; 49(2):232-4. PubMed ID: 17445044
    [No Abstract] [Full Text] [Related]

  • 5. Brain damage by mild metabolic derangements in methylmalonic acidemia.
    Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL.
    Pediatr Neurol; 2008 Nov; 39(5):325-9. PubMed ID: 18940555
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Methylmalonic acidemia.
    Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y.
    Eur J Pediatr; 1978 Jul 03; 128(3):181-6. PubMed ID: 27367
    [Abstract] [Full Text] [Related]

  • 9. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
    Giardini O, Marzetti G, Lubrano R, Laurenti F, Martino F, Mannarino O, D'Eufemia P, Ruberto U.
    Minerva Pediatr; 1980 Sep 15; 32(17):1039-46. PubMed ID: 6109233
    [No Abstract] [Full Text] [Related]

  • 10. 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 15; 88(4):322-6. PubMed ID: 16750411
    [Abstract] [Full Text] [Related]

  • 11. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
    Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.
    Rinsho Byori; 1995 Jun 15; 43(6):625-9. PubMed ID: 7602808
    [Abstract] [Full Text] [Related]

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

  • 13. [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 15; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 14. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul 15; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 15. Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
    Narisawa K, Saito T, Hisa S, Suzuki H, Hayasaka K.
    Tohoku J Exp Med; 1977 Sep 15; 123(1):1-8. PubMed ID: 21471
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 17. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 15; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

  • 18. Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant.
    Srisomsap' C, Wasant P, Svasti J, Chokchaichamnankit D, Liammongkolkul S.
    Southeast Asian J Trop Med Public Health; 1999 Apr 15; 30 Suppl 2():140-2. PubMed ID: 11400752
    [Abstract] [Full Text] [Related]

  • 19. Successful pregnancy in severe methylmalonic acidaemia.
    Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C.
    J Inherit Metab Dis; 1999 Oct 15; 22(7):788-94. PubMed ID: 10518278
    [Abstract] [Full Text] [Related]

  • 20. 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]

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