316 related articles for article (PubMed ID: 26712461)
1. A Next Generation Multiscale View of Inborn Errors of Metabolism.
Argmann CA; Houten SM; Zhu J; Schadt EE
Cell Metab; 2016 Jan; 23(1):13-26. PubMed ID: 26712461
[TBL] [Abstract][Full Text] [Related]
2. Inborn errors of metabolism and the human interactome: a systems medicine approach.
Woidy M; Muntau AC; Gersting SW
J Inherit Metab Dis; 2018 May; 41(3):285-296. PubMed ID: 29404805
[TBL] [Abstract][Full Text] [Related]
3. Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications.
Heinken A; El Kouche S; Guéant-Rodriguez RM; Guéant JL
Metabolism; 2024 Jan; 150():155738. PubMed ID: 37981189
[TBL] [Abstract][Full Text] [Related]
4. Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations.
Tebani A; Afonso C; Marret S; Bekri S
Int J Mol Sci; 2016 Sep; 17(9):. PubMed ID: 27649151
[TBL] [Abstract][Full Text] [Related]
5. Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
Lee JJY; Gottlieb MM; Lever J; Jones SJM; Blau N; van Karnebeek CDM; Wasserman WW
J Inherit Metab Dis; 2018 May; 41(3):555-562. PubMed ID: 29340838
[TBL] [Abstract][Full Text] [Related]
6. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang W; Yang J; Xue J; Mu W; Zhang X; Wu W; Xu M; Gong Y; Liu Y; Zhang Y; Xie X; Gu W; Bai J; Cram DS
BMC Med Genet; 2019 Jan; 20(1):3. PubMed ID: 30612563
[TBL] [Abstract][Full Text] [Related]
7. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM; Kluijtmans LAJ; van der Heeft E; Engelke UFH; de Boer S; Hoegen B; Kwast HJT; van de Vorst M; Huigen MCDG; Keularts IMLW; Schreuder MF; van Karnebeek CDM; Wortmann SB; de Vries MC; Janssen MCH; Gilissen C; Engel J; Wevers RA
J Inherit Metab Dis; 2018 May; 41(3):337-353. PubMed ID: 29453510
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Human biochemical genetics: an insight into inborn errors of metabolism.
Yu C; Scott CR
J Zhejiang Univ Sci B; 2006 Feb; 7(2):165-6. PubMed ID: 16421978
[TBL] [Abstract][Full Text] [Related]
10. A genome-scale modeling approach to study inborn errors of liver metabolism: toward an in silico patient.
Pagliarini R; di Bernardo D
J Comput Biol; 2013 May; 20(5):383-97. PubMed ID: 23464878
[TBL] [Abstract][Full Text] [Related]
11. Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM).
McCabe ER
Mol Genet Metab; 2010 May; 100(1):1-5. PubMed ID: 20172755
[TBL] [Abstract][Full Text] [Related]
12. The phenotype of adult versus pediatric patients with inborn errors of metabolism.
Saudubray JM; Mochel F
J Inherit Metab Dis; 2018 Sep; 41(5):753-756. PubMed ID: 29876767
[TBL] [Abstract][Full Text] [Related]
13. Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.
Wertheim-Tysarowska K; Gos M; Sykut-Cegielska J; Bal J
Dev Period Med; 2015; 19(4):413-31. PubMed ID: 26982749
[TBL] [Abstract][Full Text] [Related]
14. Inborn errors of metabolism and expanded newborn screening: review and update.
Mak CM; Lee HC; Chan AY; Lam CW
Crit Rev Clin Lab Sci; 2013 Nov; 50(6):142-62. PubMed ID: 24295058
[TBL] [Abstract][Full Text] [Related]
15. Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterström RH; Wirta V; von Döbeln U; Wedell A
BMC Genomics; 2014 Dec; 15(1):1090. PubMed ID: 25495354
[TBL] [Abstract][Full Text] [Related]
16. Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D; Brandi N; Ormazabal A; Garcia-Cazorla À; Pérez-Dueñas B; Campistol J; Ribes A; Palau F; Artuch R; Armstrong J;
PLoS One; 2016; 11(5):e0156359. PubMed ID: 27243974
[TBL] [Abstract][Full Text] [Related]
17. Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.
Piombarolo A; Ialongo C; Bizzarri M; Angeloni A
Methods Mol Biol; 2024; 2745():191-210. PubMed ID: 38060187
[TBL] [Abstract][Full Text] [Related]
18. Tracing the lipidome in inborn errors of metabolism.
Zandl-Lang M
Biochim Biophys Acta Mol Cell Biol Lipids; 2024 Jun; 1869(5):159491. PubMed ID: 38565373
[TBL] [Abstract][Full Text] [Related]
19. Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.
Saudubray JM; Garcia-Cazorla À
Pediatr Clin North Am; 2018 Apr; 65(2):179-208. PubMed ID: 29502909
[TBL] [Abstract][Full Text] [Related]
20. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S; Liu S; Zheng Q; Yang S; Mao H; Wang Z; Gu Y; Tang X; Wang L
Mol Genet Genomic Med; 2023 Jun; 11(6):e2152. PubMed ID: 36787440
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]