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Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review
BACKGROUND: Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively....
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| Publicat a: | BMC Nephrol |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7507654/ https://ncbi.nlm.nih.gov/pubmed/32957916 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-02038-7 |
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