Articles with "spectrum nubpl" as a keyword



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Expanding the Spectrum of NUBPL -Related Leukodystrophy

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Published in 2022 at "Neuropediatrics"

DOI: 10.1055/s-0043-1764214

Abstract: Abstract Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but with some shared neuroradiological features. Genetic defects in NUBPL have been recognized as cause of a pediatric… read more here.

Keywords: white matter; spectrum; leukodystrophy; spectrum nubpl ... See more keywords