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 *

249 related articles for article (PubMed ID: 16823967)

  • 1. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
    Richard E; Monteoliva L; Juarez S; Pérez B; Desviat LR; Ugarte M; Albar JP
    J Proteome Res; 2006 Jul; 5(7):1602-10. PubMed ID: 16823967
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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; 90(3):284-90. PubMed ID: 17113806
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
    Méndez ST; Vela-Amieva M; Velázquez-Arellano A; Ibarra I; Flores ME
    Rev Invest Clin; 2012; 64(3):255-61. PubMed ID: 23045948
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S; Cairns JR; Sawangareetrakul P; Liammongkolkul S; Champattanachai V; Srisomsap C; Kamolsilp M; Wasant P; Svasti J
    Biochem Genet; 2007 Jun; 45(5-6):421-30. PubMed ID: 17410422
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
    Yang X; Sakamoto O; Matsubara Y; Kure S; Suzuki Y; Aoki Y; Suzuki Y; Sakura N; Takayanagi M; Iinuma K; Ohura T
    Mol Genet Metab; 2004 Aug; 82(4):329-33. PubMed ID: 15308131
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
    Hörster F; Baumgartner MR; Viardot C; Suormala T; Burgard P; Fowler B; Hoffmann GF; Garbade SF; Kölker S; Baumgartner ER
    Pediatr Res; 2007 Aug; 62(2):225-30. PubMed ID: 17597648
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
    Sawangareetrakul P; Ketudat Cairns JR; Vatanavicharn N; Liammongkolkul S; Wasant P; Svasti J; Champattanachai V
    Biochem Genet; 2015 Dec; 53(11-12):310-8. PubMed ID: 26370686
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
    Worgan LC; Niles K; Tirone JC; Hofmann A; Verner A; Sammak A; Kucic T; Lepage P; Rosenblatt DS
    Hum Mutat; 2006 Jan; 27(1):31-43. PubMed ID: 16281286
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
    Almási T; Guey LT; Lukacs C; Csetneki K; Vokó Z; Zelei T
    Orphanet J Rare Dis; 2019 Apr; 14(1):84. PubMed ID: 31023387
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Gradinger AB; Bélair C; Worgan LC; Li CD; Lavallée J; Roquis D; Watkins D; Rosenblatt DS
    Hum Mutat; 2007 Oct; 28(10):1045. PubMed ID: 17823972
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
    Morel CF; Watkins D; Scott P; Rinaldo P; Rosenblatt DS
    Mol Genet Metab; 2005; 86(1-2):160-71. PubMed ID: 16150626
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
    Shafaat M; Alaee MR; Rahmanifar A; Setoodeh A; Razzaghy-Azar M; Bagherian H; Bagheri SD; Zafarghandi Motlagh F; Hashemi M; Abiri M; Zeinali S
    Metab Brain Dis; 2018 Oct; 33(5):1689-1697. PubMed ID: 30022420
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.