Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1

Neurol Sci. 2024 Jun;45(6):2913-2914. doi: 10.1007/s10072-024-07355-5. Epub 2024 Jan 30.

¹ Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. [email protected].
² Department of Radiology, "Tortorella" Private Hospital, Salerno, Italy.
³ Metabolic Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
⁴ Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
⁵ Child Neuropsychiatry Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. [email protected].

No abstract available

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