263 related articles for article (PubMed ID: 33574263)
1. Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.
Cheng Y; Schlosser P; Hertel J; Sekula P; Oefner PJ; Spiekerkoetter U; Mielke J; Freitag DF; Schmidts M; ; Kronenberg F; Eckardt KU; Thiele I; Li Y; Köttgen A
Nat Commun; 2021 Feb; 12(1):964. PubMed ID: 33574263
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Genotype-based databases for variants causing rare diseases.
Lanthaler B; Wieser S; Deutschmann A; Schossig A; Fauth C; Zschocke J; Witsch-Baumgartner M
Gene; 2014 Oct; 550(1):136-40. PubMed ID: 25111118
[TBL] [Abstract][Full Text] [Related]
5. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete R; Leal F; Vega AI; Morais-López A; Garcia-Silva MT; Martín-Hernández E; Quijada-Fraile P; Bergua A; Vives I; García-Jiménez I; Yahyaoui R; Pedrón-Giner C; Belanger-Quintana A; Stanescu S; Cañedo E; García-Campos O; Bueno-Delgado M; Delgado-Pecellín C; Vitoria I; Rausell MD; Balmaseda E; Couce ML; Desviat LR; Merinero B; Rodríguez-Pombo P; Ugarte M; Pérez-Cerdá C; Pérez B
Eur J Hum Genet; 2019 Apr; 27(4):556-562. PubMed ID: 30626930
[TBL] [Abstract][Full Text] [Related]
6. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A; Gallego D; Leal F; Castejón-Fernández N; Navarrete R; Alcaide P; Couce ML; Martín-Hernández E; Quijada-Fraile P; Peña-Quintana L; Yahyaoui R; Correcher P; Ugarte M; Rodríguez-Pombo P; Pérez B
Int J Mol Sci; 2022 Oct; 23(21):. PubMed ID: 36361642
[TBL] [Abstract][Full Text] [Related]
9. Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M; Shyr C; Ross CJ; Horvath GA; Salvarinova R; Ye XC; Zhang LH; Bhavsar AP; Lee JJ; Drögemöller BI; Abdelsayed M; Alfadhel M; Armstrong L; Baumgartner MR; Burda P; Connolly MB; Cameron J; Demos M; Dewan T; Dionne J; Evans AM; Friedman JM; Garber I; Lewis S; Ling J; Mandal R; Mattman A; McKinnon M; Michoulas A; Metzger D; Ogunbayo OA; Rakic B; Rozmus J; Ruben P; Sayson B; Santra S; Schultz KR; Selby K; Shekel P; Sirrs S; Skrypnyk C; Superti-Furga A; Turvey SE; Van Allen MI; Wishart D; Wu J; Wu J; Zafeiriou D; Kluijtmans L; Wevers RA; Eydoux P; Lehman AM; Vallance H; Stockler-Ipsiroglu S; Sinclair G; Wasserman WW; van Karnebeek CD
N Engl J Med; 2016 Jun; 374(23):2246-55. PubMed ID: 27276562
[TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Guo Y; Hwang LD; Li J; Eades J; Yu CW; Mansfield C; Burdick-Will A; Chang X; Chen Y; Duke FF; Zhang J; Fakharzadeh S; Fennessey P; Keating BJ; Jiang H; Hakonarson H; Reed DR; Preti G
BMC Med Genet; 2017 Feb; 18(1):11. PubMed ID: 28196478
[TBL] [Abstract][Full Text] [Related]
11. "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.
Kremer LS; Wortmann SB; Prokisch H
J Inherit Metab Dis; 2018 May; 41(3):525-532. PubMed ID: 29372369
[TBL] [Abstract][Full Text] [Related]
12. Rare and common genetic determinants of metabolic individuality and their effects on human health.
Surendran P; Stewart ID; Au Yeung VPW; Pietzner M; Raffler J; Wörheide MA; Li C; Smith RF; Wittemans LBL; Bomba L; Menni C; Zierer J; Rossi N; Sheridan PA; Watkins NA; Mangino M; Hysi PG; Di Angelantonio E; Falchi M; Spector TD; Soranzo N; Michelotti GA; Arlt W; Lotta LA; Denaxas S; Hemingway H; Gamazon ER; Howson JMM; Wood AM; Danesh J; Wareham NJ; Kastenmüller G; Fauman EB; Suhre K; Butterworth AS; Langenberg C
Nat Med; 2022 Nov; 28(11):2321-2332. PubMed ID: 36357675
[TBL] [Abstract][Full Text] [Related]
13. Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.
Trakadis YJ; Fulginiti V; Walterfang M
J Inherit Metab Dis; 2018 Jul; 41(4):613-621. PubMed ID: 28210873
[TBL] [Abstract][Full Text] [Related]
14. Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism.
Pan Z; Gu H; Talaty N; Chen H; Shanaiah N; Hainline BE; Cooks RG; Raftery D
Anal Bioanal Chem; 2007 Jan; 387(2):539-49. PubMed ID: 16821030
[TBL] [Abstract][Full Text] [Related]
15. Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models.
Didiasova M; Banning A; Tikkanen R
J Inherit Metab Dis; 2024 May; 47(3):509-516. PubMed ID: 37606592
[TBL] [Abstract][Full Text] [Related]
16. A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish.
Breuer M; Patten SA
Biomolecules; 2020 Sep; 10(9):. PubMed ID: 32971894
[TBL] [Abstract][Full Text] [Related]
17. N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.
Engelke UF; Liebrand-van Sambeek ML; de Jong JG; Leroy JG; Morava E; Smeitink JA; Wevers RA
Clin Chem; 2004 Jan; 50(1):58-66. PubMed ID: 14633929
[TBL] [Abstract][Full Text] [Related]
18. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism.
Mistry PK; Garcia-Tsao G
N Engl J Med; 2023 Nov; 389(21):2010-2013. PubMed ID: 37991861
[No Abstract] [Full Text] [Related]
19. Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells.
Pournasr B; Duncan SA
Arterioscler Thromb Vasc Biol; 2017 Nov; 37(11):1994-1999. PubMed ID: 28818857
[TBL] [Abstract][Full Text] [Related]
20. Inborn Errors of Metabolism in Dogs: Historical, Metabolic, Genetic, and Clinical Aspects.
Moura E; Tasqueti UI; Mangrich-Rocha RMV; Engracia Filho JR; Farias MR; Pimpão CT
Top Companion Anim Med; 2022; 51():100731. PubMed ID: 36272535
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
