Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next gen...
Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report
About this item
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Author / Creator
Publisher
Greece: Spandidos Publications UK Ltd
Journal title
Language
English
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Publication information
Publisher
Greece: Spandidos Publications UK Ltd
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Scope and Contents
Contents
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 Children's Hospital of Nanjing Medical University (N...
Alternative Titles
Full title
Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report
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Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5639280
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5639280
Other Identifiers
ISSN
1792-0981
E-ISSN
1792-1015
DOI
10.3892/etm.2017.4970
