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 *

257 related articles for article (PubMed ID: 33574263)

  • 41. Metabolic heritability at birth: implications for chronic disease research.
    Ryckman KK; Smith CJ; Jelliffe-Pawlowski LL; Momany AM; Berberich SL; Murray JC
    Hum Genet; 2014 Aug; 133(8):1049-57. PubMed ID: 24850141
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
    Povysil G; Chazara O; Carss KJ; Deevi SVV; Wang Q; Armisen J; Paul DS; Granger CB; Kjekshus J; Aggarwal V; Haefliger C; Goldstein DB
    JAMA Cardiol; 2021 Apr; 6(4):379-386. PubMed ID: 33326012
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism.
    Kuhara T
    Mass Spectrom Rev; 2005; 24(6):814-27. PubMed ID: 15376278
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Clinical metabolomics for inborn errors of metabolism.
    Ford L; Mitchell M; Wulff J; Evans A; Kennedy A; Elsea S; Wittmann B; Toal D
    Adv Clin Chem; 2022; 107():79-138. PubMed ID: 35337606
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
    Camp KM; Lloyd-Puryear MA; Yao L; Groft SC; Parisi MA; Mulberg A; Gopal-Srivastava R; Cederbaum S; Enns GM; Ershow AG; Frazier DM; Gohagan J; Harding C; Howell RR; Regan K; Stacpoole PW; Venditti C; Vockley J; Watson M; Coates PM
    Mol Genet Metab; 2013 Aug; 109(4):319-28. PubMed ID: 23806236
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Ex vivo proton spectroscopy (
    Cannet C; Frauendienst-Egger G; Freisinger P; Götz H; Götz M; Himmelreich N; Kock V; Spraul M; Bus C; Biskup S; Trefz F
    NMR Biomed; 2023 Apr; 36(4):e4853. PubMed ID: 36264537
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
    Park J; Lucas AM; Zhang X; Chaudhary K; Cho JH; Nadkarni G; Dobbyn A; Chittoor G; Josyula NS; Katz N; Breeyear JH; Ahmadmehrabi S; Drivas TG; Chavali VRM; Fasolino M; Sawada H; Daugherty A; Li Y; Zhang C; Bradford Y; Weaver J; Verma A; Judy RL; Kember RL; Overton JD; Reid JG; Ferreira MAR; Li AH; Baras A; LeMaire SA; Shen YH; Naji A; Kaestner KH; Vahedi G; Edwards TL; Chen J; Damrauer SM; Justice AE; Do R; Ritchie MD; Rader DJ
    Nat Med; 2021 Jan; 27(1):66-72. PubMed ID: 33432171
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
    Shayota BJ; Donti TR; Xiao J; Gijavanekar C; Kennedy AD; Hubert L; Rodan L; Vanderpluym C; Nowak C; Bjornsson HT; Ganetzky R; Berry GT; Pappan KL; Sutton VR; Sun Q; Elsea SH
    Mol Genet Metab; 2020; 131(1-2):147-154. PubMed ID: 32828637
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis.
    Bharadwaj A; Wahi N; Saxena A
    Endocr Metab Immune Disord Drug Targets; 2021; 21(4):592-616. PubMed ID: 33357204
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
    Runolfsdottir HL; Sayer JA; Indridason OS; Edvardsson VO; Jensson BO; Arnadottir GA; Gudjonsson SA; Fridriksdottir R; Katrinardottir H; Gudbjartsson D; Thorsteinsdottir U; Sulem P; Stefansson K; Palsson R
    Eur J Hum Genet; 2021 Jul; 29(7):1061-1070. PubMed ID: 33707627
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A compendium of inborn errors of metabolism mapped onto the human metabolic network.
    Sahoo S; Franzson L; Jonsson JJ; Thiele I
    Mol Biosyst; 2012 Oct; 8(10):2545-58. PubMed ID: 22699794
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Assessment of candidate variants causative of inborn metabolic diseases in SUDI cases in South Africa, and a case report.
    Heathfield LJ; Bhengu W; Louw S; Martin LJ; Ramesar R
    Int J Legal Med; 2020 Sep; 134(5):1639-1645. PubMed ID: 32556492
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing.
    van de Burgt N; van Koningsbruggen S; Behrens L; Leibold N; Martinez-Martinez P; Mannens M; van Amelsvoort T
    J Psychiatr Res; 2021 Jun; 138():125-129. PubMed ID: 33848968
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
    Guo Y; Jiang J; Xu Z
    Orphanet J Rare Dis; 2023 Jun; 18(1):148. PubMed ID: 37308883
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.
    Demirkan A; Henneman P; Verhoeven A; Dharuri H; Amin N; van Klinken JB; Karssen LC; de Vries B; Meissner A; Göraler S; van den Maagdenberg AM; Deelder AM; C 't Hoen PA; van Duijn CM; van Dijk KW
    PLoS Genet; 2015 Jan; 11(1):e1004835. PubMed ID: 25569235
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
    Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
    Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Genome Sequencing for Diagnosing Rare Diseases.
    Wojcik MH; Lemire G; Berger E; Zaki MS; Wissmann M; Win W; White SM; Weisburd B; Wieczorek D; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Syrbe S; Strehlow V; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Radtke M; Popp D; Polster T; Platzer K; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Opperman H; Okur V; Oja KT; O'Leary M; O'Heir E; Morel CF; Merkenschlager A; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Hentschel J; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gburek-Augustat J; Gazda HT; Ganesh VS; Ganapathi M; Gallacher L; Fu JM; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bönnemann CG; Beggs AH; Baxter SM; Bartolomaeus T; Agrawal PB; Talkowski M; Austin-Tse C; Abou Jamra R; Rehm HL; O'Donnell-Luria A
    N Engl J Med; 2024 Jun; 390(21):1985-1997. PubMed ID: 38838312
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
    Neubauer J; Lecca MR; Russo G; Bartsch C; Medeiros-Domingo A; Berger W; Haas C
    Eur J Hum Genet; 2017 Apr; 25(4):404-409. PubMed ID: 28074886
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity.
    Ferreira CS; da Silva Francisco Junior R; Gerber AL; Guimarães APC; Amendola FA; Pinto-Mariz F; de Souza MS; Miranda PCB; de Vasconcelos ZFM; Goudouris ES; Vasconcelos ATR
    BMC Genom Data; 2023 Jun; 24(1):36. PubMed ID: 37391719
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Gene therapy for the treatment of inborn errors of metabolism].
    Pérez-López J
    Med Clin (Barc); 2014 Jun; 142(12):549-53. PubMed ID: 23932565
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.