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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant |
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| Authors: | Daniel J. Pomerantz Sacha Ferdinandusse Joy Cogan David N. Cooper Tyler Reimschisel Amy Robertson Anna Bican Tracy McGregor Jackie Gauthier David S. Millington Jaime L. W. Andrae Michael R. Tschannen Daniel C. Helbling Wendy M. Demos Simone Denis Ronald J. A. Wanders John N. Newman Rizwan Hamid John A. Phillips III Collaborators of UDN |
| Affiliation: | 1. Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee;2. Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands;3. Institute of Medical Genetics, School of Medicine, Heath Park, Cardiff University, Cardiff, United Kingdom;4. Department of Pediatrics, Duke University Medical Center, Durham, North Carolina;5. Medical College of Wisconsin, Milwaukee, Wisconsin;6. Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee |
| Abstract: | |
| Keywords: | 2,4 dienoyl‐CoA reductase deficiency hyperlysinemia NADK2 NADPH optic atrophy start‐loss codon |