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Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0134-3
Abstract: BackgroundIn 2009, untargeted metabolomics led to the delineation of a new clinico-biological entity called cerebellar ataxia with elevated cerebrospinal free sialic acid, or CAFSA. In order to elucidate CAFSA, we applied sequentially targeted and untargeted…
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Keywords:
versus untargeted;
cafsa patients;
cafsa;
free sialic ... See more keywords