Renal genetics in transition
| Autor: | Rozemarijn Snoek |
|---|---|
| Přispěvatelé: | Knoers, V.V.A.M., van Eerde, A.M., Lely, A.T., University Utrecht |
| Rok vydání: | 2020 |
| Předmět: |
Kidney
Pregnancy medicine.diagnostic_test Transition (genetics) business.industry media_common.quotation_subject Fertility Disease Genetics kidney chronic kidney disease kidney transplant preimplantation genetic testing pregnancy fertility ultrasound gene medicine.disease Bioinformatics Kidney transplant medicine.anatomical_structure medicine business Genetic testing media_common |
| DOI: | 10.33540/294 |
| Popis: | The work in this thesis makes the case for a genetics-first approach in CKD. Though there is a high prevalence of monogenic kidney disease (MGKD), it is underdiagnosed in daily practice. This while an adequate MGKD diagnosis provides patients with life-long improvements in care and well-being. Next to the direct impact on patients, the outcomes of genetic testing increase knowledge on disease processes. More knowledge on MGKD will allow for the identification of more MGKD patients and the improvement of reproductive care. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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