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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

333 related items for PubMed ID: 18940555

  • 1. 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]

  • 2. 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]

  • 3. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
    Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

  • 4. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
    Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS.
    Am J Med Genet; 1993 Mar 01; 45(5):619-24. PubMed ID: 7681251
    [Abstract] [Full Text] [Related]

  • 5. [Isolated methylmalonyl-CoA mutase deficiency].
    Yoshino M.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar 01; (18 Pt 1):269-72. PubMed ID: 9590044
    [No Abstract] [Full Text] [Related]

  • 6. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.
    Campbell CD, Ganesh J, Ficicioglu C.
    Haematologica; 2005 Dec 01; 90(12 Suppl):ECR45. PubMed ID: 16464760
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 10(8):943-7. PubMed ID: 17096763
    [Abstract] [Full Text] [Related]

  • 9. [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 01; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 10. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.
    Hum Mutat; 2000 Aug 01; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 11. Management of West syndrome in a patient with methylmalonic aciduria.
    Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I.
    J Child Neurol; 2010 Jan 01; 25(1):94-7. PubMed ID: 19700743
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Jan 01; 9(1):1-6. PubMed ID: 8990001
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
    Chandler RJ, Venditti CP.
    Hum Gene Ther; 2008 Jan 01; 19(1):53-60. PubMed ID: 18052792
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. 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 01; 49(2):232-4. PubMed ID: 17445044
    [No Abstract] [Full Text] [Related]

  • 18. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov 01; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 19. [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 01; 43(6):625-9. PubMed ID: 7602808
    [Abstract] [Full Text] [Related]

  • 20. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
    Mol Genet Metab; 2007 Mar 01; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 17.