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

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, biochemical find...

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Detalles Bibliográficos
Autores principales:	Wang, Xianling, Yang, Yanhui, Li, Xuying, Li, Cunjiang, Wang, Chaodong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521494/ https://www.ncbi.nlm.nih.gov/pubmed/31092259 http://dx.doi.org/10.1186/s13023-019-1058-9

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