BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

680 related articles for article (PubMed ID: 32451238)

  • 41. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
    Chandler RJ; Aswani V; Tsai MS; Falk M; Wehrli N; Stabler S; Allen R; Sedensky M; Kazazian HH; Venditti CP
    Mol Genet Metab; 2006; 89(1-2):64-73. PubMed ID: 16843692
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Pathophysiological mechanisms of complications associated with propionic acidemia.
    Marchuk H; Wang Y; Ladd ZA; Chen X; Zhang GF
    Pharmacol Ther; 2023 Sep; 249():108501. PubMed ID: 37482098
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
    Malvagia S; Haynes CA; Grisotto L; Ombrone D; Funghini S; Moretti E; McGreevy KS; Biggeri A; Guerrini R; Yahyaoui R; Garg U; Seeterlin M; Chace D; De Jesus VR; la Marca G
    Clin Chim Acta; 2015 Oct; 450():342-8. PubMed ID: 26368264
    [TBL] [Abstract][Full Text] [Related]  

  • 44. NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias.
    Deleanu C; Nicolescu A
    Biomolecules; 2024 Apr; 14(5):. PubMed ID: 38785935
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
    Stanescu S; Belanger-Quintana A; Fernandez-Felix BM; Ruiz-Sala P; Del Valle M; Garcia F; Arrieta F; Martinez-Pardo M
    Amino Acids; 2022 May; 54(5):777-786. PubMed ID: 35098378
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
    Gotoh K; Nakajima Y; Tajima G; Watanabe Y; Hotta Y; Kataoka T; Kawade Y; Sugiyama N; Ito T; Kimura K; Maeda Y
    J Chromatogr B Analyt Technol Biomed Life Sci; 2017 Mar; 1046():195-199. PubMed ID: 28189105
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
    Haijes HA; Molema F; Langeveld M; Janssen MC; Bosch AM; van Spronsen F; Mulder MF; Verhoeven-Duif NM; Jans JJM; van der Ploeg AT; Wagenmakers MA; Rubio-Gozalbo ME; Brouwers MCGJ; de Vries MC; Langendonk JG; Williams M; van Hasselt PM
    J Inherit Metab Dis; 2020 May; 43(3):424-437. PubMed ID: 31828787
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
    Head PE; Myung S; Chen Y; Schneller JL; Wang C; Duncan N; Hoffman P; Chang D; Gebremariam A; Gucek M; Manoli I; Venditti CP
    Sci Transl Med; 2022 May; 14(646):eabn4772. PubMed ID: 35613279
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
    Pillai NR; Stroup BM; Poliner A; Rossetti L; Rawls B; Shayota BJ; Soler-Alfonso C; Tunuguntala HP; Goss J; Craigen W; Scaglia F; Sutton VR; Himes RW; Burrage LC
    Mol Genet Metab; 2019 Dec; 128(4):431-443. PubMed ID: 31757659
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
    Gancheva S; Caspari D; Bierwagen A; Jelenik T; Caprio S; Santoro N; Rothe M; Markgraf DF; Herebian D; Hwang JH; Öner-Sieben S; Mennenga J; Pacini G; Thimm E; Schlune A; Meissner T; Vom Dahl S; Klee D; Mayatepek E; Roden M; Ensenauer R
    J Inherit Metab Dis; 2020 Sep; 43(5):981-993. PubMed ID: 32118306
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
    Abacan M; Boneh A
    Mol Genet Metab; 2013 Aug; 109(4):397-401. PubMed ID: 23791308
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
    de Keyzer Y; Valayannopoulos V; Benoist JF; Batteux F; Lacaille F; Hubert L; Chrétien D; Chadefeaux-Vekemans B; Niaudet P; Touati G; Munnich A; de Lonlay P
    Pediatr Res; 2009 Jul; 66(1):91-5. PubMed ID: 19342984
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
    Waisbren SE
    Metab Brain Dis; 2022 Jun; 37(5):1317-1335. PubMed ID: 35348993
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
    Filipowicz HR; Ernst SL; Ashurst CL; Pasquali M; Longo N
    Mol Genet Metab; 2006 Jun; 88(2):123-30. PubMed ID: 16406646
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.
    Imataka G; Sakamoto O; Yamanouchi H; Yoshihara S; Omura-Hasegawa Y; Tajima G; Arisaka O
    Cell Biochem Biophys; 2013 Sep; 67(1):185-7. PubMed ID: 23479330
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the
    Waters PJ; Thuriot F; Clarke JT; Gravel S; Watkins D; Rosenblatt DS; Lévesque S
    Mol Genet Metab Rep; 2016 Dec; 9():19-24. PubMed ID: 27699154
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A Rare Case of Propionic Acidemia in a Six Months Female Child.
    Irum S; Rehman A; Aamir M; Haroon ZH; Chaudhry N; Bibi A
    J Coll Physicians Surg Pak; 2022 Aug; 32(8):S180-S182. PubMed ID: 36210688
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
    Chu TH; Chien YH; Lin HY; Liao HC; Ho HJ; Lai CJ; Chiang CC; Lin NC; Yang CF; Hwu WL; Lee NC; Lin SP; Liu CS; Hu RH; Ho MC; Niu DM
    Orphanet J Rare Dis; 2019 Apr; 14(1):73. PubMed ID: 30940196
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 34.