Articles with "onset cobalamin" as a keyword



Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases

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Published in 2019 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-019-1058-9

Abstract: ObjectiveThe importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.MethodsTotally 16 late-onset cblC cases were diagnosed based on clinical,… read more here.

Keywords: onset; late onset; clinical neuroimaging; onset cobalamin ... See more keywords