COQ8B nephropathy: Early detection and optimal treatment
Abstract Background Mutations in COQ8B (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS). Methods To define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with COQ8B mutations fr...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wiley
2020-08-01
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| Schriftenreihe: | Molecular Genetics & Genomic Medicine |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1002/mgg3.1360 |
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