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...

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Detalles Bibliográficos
Autores principales: Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Review
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

Internet

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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