Associated Papers
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Murray GC et al.
Human Molecular Genetics, 2022
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
Mor-Shaked H et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Pomerantz DJ et al.
American Journal of Medical Genetics. Part A, 2018
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Houten SM et al.
Human Molecular Genetics, 2014
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