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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 9102141)

  • 1. [A molecular study of methylmalonic aciduria: structure-function correlations].
    Rosenblatt DS; Ledley FD
    Bull Acad Natl Med; 1996 Oct; 180(7):1553-63; discussion 1563-4. PubMed ID: 9102141
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE; Hosack AR; Gilfix BM; Lamothe E; Sun S; Chan A; Evans S; Matiaszuk NV; Rosenblatt DS
    Hum Mutat; 1998; 11(4):270-4. PubMed ID: 9554742
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 25(2):167-76. PubMed ID: 15643616
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
    Drennan CL; Matthews RG; Rosenblatt DS; Ledley FD; Fenton WA; Ludwig ML
    Proc Natl Acad Sci U S A; 1996 May; 93(11):5550-5. PubMed ID: 8643613
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 16(2):179. PubMed ID: 10923046
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM; Wai T; Leclerc D; Wilson A; Wu X; Doré C; Hudson T; Rosenblatt DS; Gravel RA
    Proc Natl Acad Sci U S A; 2002 Nov; 99(24):15554-9. PubMed ID: 12438653
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
    Thomä NH; Leadlay PF
    Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H; Bakker HD; Abeling NG; Poll-The BT; Kleijer WJ; Rosenblatt DS; Waterham HR; Wanders RJ; Duran M
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 20(5):406. PubMed ID: 12402345
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA; Rincón A; Desviat LR; Merinero B; Ugarte M; Pérez B
    Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H; Ogasawara M; Matsubara Y; Kikuchi M; Miyabayashi S; Kure S; Narisawa K
    J Hum Genet; 1999; 44(1):35-9. PubMed ID: 9929975
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Methylmalonic aciduria (cblF): case report and response to therapy.
    Waggoner DJ; Ueda K; Mantia C; Dowton SB
    Am J Med Genet; 1998 Oct; 79(5):373-5. PubMed ID: 9779804
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
    Crane AM; Ledley FD
    Am J Hum Genet; 1994 Jul; 55(1):42-50. PubMed ID: 7912889
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
    Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA
    Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gene identification for the cblD defect of vitamin B12 metabolism.
    Coelho D; Suormala T; Stucki M; Lerner-Ellis JP; Rosenblatt DS; Newbold RF; Baumgartner MR; Fowler B
    N Engl J Med; 2008 Apr; 358(14):1454-64. PubMed ID: 18385497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 8.