Associated Papers
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Platt I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome.
Sathe G et al.
Mitochondrion, 2021
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