221 related articles for article (PubMed ID: 35379134)
1. Inborn Errors of Metabolism Screening in Neonates: Current Perspective with Diagnosis and Therapy.
Mukherjee S; Ray SK
Curr Pediatr Rev; 2022; 18(4):274-285. PubMed ID: 35379134
[TBL] [Abstract][Full Text] [Related]
2. Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.
Vernon HJ
JAMA Pediatr; 2015 Aug; 169(8):778-82. PubMed ID: 26075348
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN; Gallagher RC; Wang Y; Currier RJ; Amatuni G; Bassaganyas L; Chen F; Kundu K; Kvale M; Mooney SD; Nussbaum RL; Randi SS; Sanford J; Shieh JT; Srinivasan R; Sunderam U; Tang H; Vaka D; Zou Y; Koenig BA; Kwok PY; Risch N; Puck JM; Brenner SE
Nat Med; 2020 Sep; 26(9):1392-1397. PubMed ID: 32778825
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy RM; Abd-Elkhalek HS; Bakheet MA; Mohamed MM
Arch Pediatr; 2022 Jan; 29(1):36-43. PubMed ID: 34848132
[TBL] [Abstract][Full Text] [Related]
10. Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.
Dunne E; O'Reilly D; Murphy CA; Howard C; Kelleher G; Suttie T; Boyle MA; Brady JJ; Knerr I; Khuffash AE
Eur J Pediatr; 2022 Oct; 181(10):3725-3732. PubMed ID: 35945291
[TBL] [Abstract][Full Text] [Related]
11. New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS).
Shanmuganathan M; Britz-McKibbin P
Methods Mol Biol; 2019; 1972():139-163. PubMed ID: 30847789
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.
Ismail IT; Showalter MR; Fiehn O
Metabolites; 2019 Oct; 9(10):. PubMed ID: 31640247
[TBL] [Abstract][Full Text] [Related]
14. Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years' Single-Center Experience, Jeddah, Saudi Arabia.
Al Qurashi M; Alahmadi S; Mustafa A; Aga SS; Al Hindi M; Ahmed A; Mohammad H; ElSharabasy R; Abed S; AlThubaiti I; Alrashdi N
Clin Pediatr (Phila); 2023 Dec; 62(12):1523-1530. PubMed ID: 37908170
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting.
Mukherjee S; Kotnis A; Ray SK; Vaidyanathan K; Singh S; Mittal R
Curr Pediatr Rev; 2022; 19(1):34-47. PubMed ID: 35379152
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Falsaperla R; Sciuto L; La Spina L; Sciuto S; Praticò AD; Ruggieri M
Metab Brain Dis; 2021 Dec; 36(8):2195-2203. PubMed ID: 34403026
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Inborn errors of metabolism and their status in India.
Dherai AJ
Clin Lab Med; 2012 Jun; 32(2):263-79. PubMed ID: 22727004
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]