Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
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DOI: 10.1007/s00415-019-09640-2
Abstract: Neurometabolic disorders are often inherited and complex disorders that result from abnormalities of enzymes important for development and function of the nervous system. Recently, biallelic mutations in NAXE ( APOA1BP ) were found in patients… read more here.
Keywords: cause neurometabolic; novel naxe; variants cause; treatment ... See more keywords