315 related articles for article (PubMed ID: 32445384)
1. Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism.
Ford L; Kennedy AD; Goodman KD; Pappan KL; Evans AM; Miller LAD; Wulff JE; Wiggs BR; Lennon JJ; Elsea S; Toal DR
J Appl Lab Med; 2020 Mar; 5(2):342-356. PubMed ID: 32445384
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism.
Jacob M; Malkawi A; Albast N; Al Bougha S; Lopata A; Dasouki M; Abdel Rahman AM
Anal Chim Acta; 2018 Sep; 1025():141-153. PubMed ID: 29801603
[TBL] [Abstract][Full Text] [Related]
4. Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
Václavík J; Coene KLM; Vrobel I; Najdekr L; Friedecký D; Karlíková R; Mádrová L; Petsalo A; Engelke UFH; van Wegberg A; Kluijtmans LAJ; Adam T; Wevers RA
J Inherit Metab Dis; 2018 May; 41(3):407-414. PubMed ID: 29139026
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Steinbusch LKM; Wang P; Waterval HWAH; Stassen FAPM; Coene KLM; Engelke UFH; Habets DDJ; Bierau J; Körver-Keularts IMLW
J Inherit Metab Dis; 2021 Sep; 44(5):1113-1123. PubMed ID: 33843072
[TBL] [Abstract][Full Text] [Related]
7. The role of the Human Metabolome Database in inborn errors of metabolism.
Mandal R; Chamot D; Wishart DS
J Inherit Metab Dis; 2018 May; 41(3):329-336. PubMed ID: 29663269
[TBL] [Abstract][Full Text] [Related]
8. Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.
Mordaunt D; Cox D; Fuller M
Int J Mol Sci; 2020 Feb; 21(4):. PubMed ID: 32054038
[TBL] [Abstract][Full Text] [Related]
9. Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Klinke G; Richter S; Monostori P; Schmidt-Mader B; García-Cazorla A; Artuch R; Christ S; Opladen T; Hoffmann GF; Blau N; Okun JG
J Inherit Metab Dis; 2020 Jul; 43(4):712-725. PubMed ID: 31930732
[TBL] [Abstract][Full Text] [Related]
10. Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles.
Peters TMA; Engelke UFH; de Boer S; van der Heeft E; Pritsch C; Kulkarni P; Wevers RA; Willemsen MAAP; Verbeek MM; Coene KLM
J Inherit Metab Dis; 2020 Sep; 43(5):1112-1120. PubMed ID: 32406085
[TBL] [Abstract][Full Text] [Related]
11. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Haijes HA; van der Ham M; Gerrits J; van Hasselt PM; Prinsen HCMT; de Sain-van der Velden MGM; Verhoeven-Duif NM; Jans JJM
Mol Genet Metab; 2019 May; 127(1):51-57. PubMed ID: 30926434
[TBL] [Abstract][Full Text] [Related]
12. Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.
Kennedy AD; Pappan KL; Donti TR; Evans AM; Wulff JE; Miller LAD; Reid Sutton V; Sun Q; Miller MJ; Elsea SH
Mol Genet Metab; 2017 Jun; 121(2):83-90. PubMed ID: 28412083
[TBL] [Abstract][Full Text] [Related]
13. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
Miller MJ; Kennedy AD; Eckhart AD; Burrage LC; Wulff JE; Miller LA; Milburn MV; Ryals JA; Beaudet AL; Sun Q; Sutton VR; Elsea SH
J Inherit Metab Dis; 2015 Nov; 38(6):1029-39. PubMed ID: 25875217
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns.
Bruno C; Veyrat-Durebex C; Lumbu Lukuntonda CH; Andres CR; Moreau C; Bendavid C; Homedan C; Labarthe F; Tardieu M; Bigot A; Maillot F; Benz-de Bretagne I; Blasco H
Clin Biochem; 2021 Jun; 92():34-45. PubMed ID: 33736999
[TBL] [Abstract][Full Text] [Related]
16. Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
Haijes HA; van der Ham M; Prinsen HCMT; Broeks MH; van Hasselt PM; de Sain-van der Velden MGM; Verhoeven-Duif NM; Jans JJM
Int J Mol Sci; 2020 Feb; 21(3):. PubMed ID: 32024143
[TBL] [Abstract][Full Text] [Related]
17. A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry.
Casado M; Sierra C; Batllori M; Artuch R; Ormazabal A
Metabolomics; 2018 May; 14(6):76. PubMed ID: 30830347
[TBL] [Abstract][Full Text] [Related]
18. An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.
Wurth R; Turgeon C; Stander Z; Oglesbee D
Mol Genet Metab; 2024 Jan; 141(1):108115. PubMed ID: 38181458
[TBL] [Abstract][Full Text] [Related]
19. Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N; Xiao J; Gijavanekar C; Pappan KL; Glinton KE; Shayota BJ; Kennedy AD; Sun Q; Sutton VR; Elsea SH
JAMA Netw Open; 2021 Jul; 4(7):e2114155. PubMed ID: 34251446
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
