Naess K

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A

Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

Naess K, Bruhn H, Stranneheim H, ..., Wedell A, von Döbeln U

J Pediatr 228 (-) 240-251.e2 [2021-01-00; online 2020-08-19]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]