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...

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Detalles Bibliográficos
Publicado en:Medicine (Baltimore)
Main Authors: Jung, Jiwon, Seo, Go Hun, Kim, Yoo-Mi, Han, Young Mi, Park, Ji Kwon, Kim, Gu-Hwan, Lee, Joo Hoon, Park, Young Seo, Lee, Byong Sop, Kim, Ellen Ai-Rhan, Lee, Pil-Ryang, Lee, Beom Hee
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer Health 2020
Assuntos:
5200
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7440252/
https://ncbi.nlm.nih.gov/pubmed/32384486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000020113
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