BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

455 related articles for article (PubMed ID: 17597648)

  • 1. 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]  

  • 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. Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
    Hörster F; Tuncel AT; Gleich F; Plessl T; Froese SD; Garbade SF; Kölker S; Baumgartner MR;
    J Inherit Metab Dis; 2021 Jan; 44(1):193-214. PubMed ID: 32754920
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
    Merinero B; Pérez B; Pérez-Cerdá C; Rincón A; Desviat LR; Martínez MA; Sala PR; García MJ; Aldamiz-Echevarría L; Campos J; Cornejo V; Del Toro M; Mahfoud A; Martínez-Pardo M; Parini R; Pedrón C; Peña-Quintana L; Pérez M; Pourfarzam M; Ugarte M
    J Inherit Metab Dis; 2008 Feb; 31(1):55-66. PubMed ID: 17957493
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
    Hörster F; Garbade SF; Zwickler T; Aydin HI; Bodamer OA; Burlina AB; Das AM; De Klerk JBC; Dionisi-Vici C; Geb S; Gökcay G; Guffon N; Maier EM; Morava E; Walter JH; Schwahn B; Wijburg FA; Lindner M; Grünewald S; Baumgartner MR; Kölker S
    J Inherit Metab Dis; 2009 Oct; 32(5):630. PubMed ID: 19642010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
    Illson ML; Dempsey-Nunez L; Kent J; Huang Q; Brebner A; Raff ML; Watkins D; Gilfix BM; Wittwer CT; Rosenblatt DS
    Mol Genet Metab; 2013; 110(1-2):86-9. PubMed ID: 23707710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
    Plessl T; Bürer C; Lutz S; Yue WW; Baumgartner MR; Froese DS
    Hum Mutat; 2017 Aug; 38(8):988-1001. PubMed ID: 28497574
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
    Şeker Yılmaz B; Kor D; Bulut FD; Kılavuz S; Ceylaner S; Önenli Mungan HN
    Turk J Med Sci; 2021 Jun; 51(3):1220-1228. PubMed ID: 33453710
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
    Keyfi F; Abbaszadegan MR; Sankian M; Rolfs A; Orolicki S; Pournasrollah M; Alijanpour M; Varasteh A
    Mol Biol Rep; 2019 Feb; 46(1):271-285. PubMed ID: 30712249
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
    Vatanavicharn N; Champattanachai V; Liammongkolkul S; Sawangareetrakul P; Keeratichamroen S; Ketudat Cairns JR; Srisomsap C; Sathienkijkanchai A; Shotelersuk V; Kamolsilp M; Wattanasirichaigoon D; Svasti J; Wasant P
    Mol Genet Metab; 2012 Aug; 106(4):424-9. PubMed ID: 22695176
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
    Froese DS; Kochan G; Muniz JR; Wu X; Gileadi C; Ugochukwu E; Krysztofinska E; Gravel RA; Oppermann U; Yue WW
    J Biol Chem; 2010 Dec; 285(49):38204-13. PubMed ID: 20876572
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Causes of and diagnostic approach to methylmalonic acidurias.
    Fowler B; Leonard JV; Baumgartner MR
    J Inherit Metab Dis; 2008 Jun; 31(3):350-60. PubMed ID: 18563633
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. The natural history of the inherited methylmalonic acidemias.
    Matsui SM; Mahoney MJ; Rosenberg LE
    N Engl J Med; 1983 Apr; 308(15):857-61. PubMed ID: 6132336
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
    Pérez B; Angaroni C; Sánchez-Alcudia R; Merinero B; Pérez-Cerdá C; Specola N; Rodríguez-Pombo P; Wajner M; de Kremer RD; Cornejo V; Desviat LR; Ugarte M
    J Inherit Metab Dis; 2010 Oct; 33(Suppl 2):S307-14. PubMed ID: 20549364
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.