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2023 | 3 |
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Page 1
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005.
Cell Rep. 2019.
PMID: 31042466
Free PMC article.
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.
Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ.
Abou Haidar L, et al. Among authors: gotway gk.
Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006295. doi: 10.1101/mcs.a006295. Print 2023 Dec.
Cold Spring Harb Mol Case Stud. 2024.
PMID: 37709555
Free PMC article.
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An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Cai L, Vu HS, Gu W, Chen H, Franklin J, Haidar LA, Wu Z, Pan C, Cai F, Nguyen P, Ko B, Yang C, Zacharias LG, Sudderth J, Montgomery S, Uhles C, Fisher H, Hudnall J, Hornbuckle C, Quinn C, Michel D, Umaña L, Scheuerle A, McNutt MC, Gotway GK, Afroze B, Ni M, DeBerardinis R.
Cai L, et al. Among authors: gotway gk.
bioRxiv [Preprint]. 2023 Dec 12:2023.12.11.571124. doi: 10.1101/2023.12.11.571124.
bioRxiv. 2023.
PMID: 38168314
Free PMC article.
Preprint.
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Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.
Abou Haidar L, Pachnis P, Gotway GK, Ni M, DeBerardinis RJ, McNutt MC.
Abou Haidar L, et al. Among authors: gotway gk.
JIMD Rep. 2023 Sep 7;64(6):403-409. doi: 10.1002/jmd2.12388. eCollection 2023 Nov.
JIMD Rep. 2023.
PMID: 37927481
Free PMC article.
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