Glinton KE - Search Results

1

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Glinton KE, et al. Mol Genet Metab. 2018 Mar;123(3):309-316. doi: 10.1016/j.ymgme.2017.12.009. Epub 2017 Dec 12. Mol Genet Metab. 2018. PMID: 29269105

2

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.

Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH. Glinton KE, et al. Mol Genet Metab Rep. 2018 Dec 29;18:14-18. doi: 10.1016/j.ymgmr.2018.12.005. eCollection 2019 Mar. Mol Genet Metab Rep. 2018. PMID: 30619714 Free PMC article.

3

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.

4

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.

Glinton KE, Elsea SH. Glinton KE, et al. Front Psychiatry. 2019 Sep 10;10:647. doi: 10.3389/fpsyt.2019.00647. eCollection 2019. Front Psychiatry. 2019. PMID: 31551836 Free PMC article. Review.

5

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Birjiniuk A, et al. Among authors: glinton ke. Am J Med Genet A. 2020 Apr;182(4):755-761. doi: 10.1002/ajmg.a.61491. Epub 2020 Jan 22. Am J Med Genet A. 2020. PMID: 31970900

6

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH. Alaimo JT, et al. Among authors: glinton ke. Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22. Genet Med. 2020. PMID: 32439973 Free PMC article.

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. Liu N, et al. Among authors: glinton ke. JAMA Netw Open. 2021 Jul 1;4(7):e2114155. doi: 10.1001/jamanetworkopen.2021.14155. JAMA Netw Open. 2021. PMID: 34251446 Free PMC article.

8

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis.

Milosavljevic S, Glinton KE, Li X, Medeiros C, Gillespie P, Seavitt JR, Graham BH, Elsea SH. Milosavljevic S, et al. Among authors: glinton ke. Metabolites. 2022 Apr 14;12(4):351. doi: 10.3390/metabo12040351. Metabolites. 2022. PMID: 35448538 Free PMC article.

9

Advancements in therapeutics for inborn errors of metabolism.

Turner A, Glinton KE, Sutton VR. Turner A, et al. Among authors: glinton ke. Curr Opin Pediatr. 2022 Dec 1;34(6):559-564. doi: 10.1097/MOP.0000000000001168. Epub 2022 Aug 22. Curr Opin Pediatr. 2022. PMID: 35993290 Review.

10

Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.

Glinton KE, Minard CG, Liu N, Sun Q, Elsea SH, Burrage LC, Nagamani SCS. Glinton KE, et al. Mol Genet Metab. 2023 Nov;140(3):107699. doi: 10.1016/j.ymgme.2023.107699. Epub 2023 Sep 11. Mol Genet Metab. 2023. PMID: 37717413

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