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

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

Abstract Objective The 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. Methods Totally 16 late-onset cblC cases were diagnosed based on clinical, biochemic...

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Bibliographic Details
Main Authors: Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li, Chaodong Wang
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CblC disease
MMAHC gene
Neuroimaging
Phenotypic heterogeneity
Online Access:http://link.springer.com/article/10.1186/s13023-019-1058-9

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http://link.springer.com/article/10.1186/s13023-019-1058-9

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