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Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report

The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Ch...

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Detalles Bibliográficos
Autores principales:	Chen, Qiuxia, Bao, Huaying, Wu, Hongmei, Zhao, Sanlong, Huang, Songming, Zhao, Fei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639280/ https://www.ncbi.nlm.nih.gov/pubmed/29042959 http://dx.doi.org/10.3892/etm.2017.4970

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