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Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the “molar tooth sign” on axial brain images, hypotonia, and developmental delay. Approximately 25–30% of patients with JS have kidney disease and many of them pro...
Autores principales: | Takagi, Yoko, Miura, Kenichiro, Yabuuchi, Tomoo, Kaneko, Naoto, Ishizuka, Kiyonobu, Takei, Mariko, Yajima, Chikage, Ikeuchi, Yuka, Kobayashi, Yasuko, Takizawa, Takumi, Hisano, Masataka, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Hattori, Motoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801635/ https://www.ncbi.nlm.nih.gov/pubmed/33432080 http://dx.doi.org/10.1038/s41598-020-80712-4 |
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