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Genetic assessment in primary hyperoxaluria: why it matters
Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients with PH type 1 (PH1) have a worse prognosis than those with...
Autores principales: | Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842587/ https://www.ncbi.nlm.nih.gov/pubmed/35695965 http://dx.doi.org/10.1007/s00467-022-05613-2 |
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