Associated Papers
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Ng BG et al.
Genetics in Medicine Open, 2025
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB et al.
Neurology. Genetics, 2024
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Peretz RH et al.
American Journal of Medical Genetics. Part A, 2023
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