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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1990 | 1 |
2012 | 1 |
2014 | 1 |
2016 | 1 |
2018 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 133686
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Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Hum Mol Genet. 2022 Nov 28;31(23):4055-4074. doi: 10.1093/hmg/ddac151.
Hum Mol Genet. 2022.
PMID: 35796562
Free PMC article.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN.
Pomerantz DJ, et al.
Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1.
Am J Med Genet A. 2018.
PMID: 29388319
Free PMC article.
Review.
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Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.
Tort F, Ugarteburu O, Torres MA, García-Villoria J, Girós M, Ruiz A, Ribes A.
Tort F, et al.
Pediatrics. 2016 Nov;138(5):e20154534. doi: 10.1542/peds.2015-4534. Epub 2016 Oct 18.
Pediatrics. 2016.
PMID: 27940755
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Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ.
Houten SM, et al.
Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8.
Hum Mol Genet. 2014.
PMID: 24847004
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Identification and characterization of a human mitochondrial NAD kinase.
Ohashi K, Kawai S, Murata K.
Ohashi K, et al.
Nat Commun. 2012;3:1248. doi: 10.1038/ncomms2262.
Nat Commun. 2012.
PMID: 23212377
Free PMC article.
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2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.
Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, Nada M, Schulz H, McVie R.
Roe CR, et al.
J Clin Invest. 1990 May;85(5):1703-7. doi: 10.1172/JCI114624.
J Clin Invest. 1990.
PMID: 2332510
Free PMC article.
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