Associated Papers
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T et al.
Journal of Human Genetics, 2019
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Vasta V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
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