Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Murray GC et al.
Human Molecular Genetics, 2022
Mitochondrial NADP+ is essential for proline biosynthesis during cell growth.
Tran DH et al.
Nature Metabolism, 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
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