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- 2019
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese casesDOI: 10.1186/s13023-019-1058-9 Keywords: CblC disease, MMAHC gene, Neuroimaging , Phenotypic heterogeneity Abstract: The online version of this article (10.1186/s13023-019-1058-9) contains supplementary material, which is available to authorized users
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