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Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity. The aim of this study was to describe the most severe form of ARPKD, with a fatal clinical course, and its association...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440252/ https://www.ncbi.nlm.nih.gov/pubmed/32384486 http://dx.doi.org/10.1097/MD.0000000000020113 |