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Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmo...
Autores principales: | Hanafusa, Hiroaki, Nakamura, Katsuya, Kamijo, Yuji, Kitahara, Masashi, Ehara, Takashi, Yoshinaga, Tsuneaki, Aoki, Kaoru, Katoh, Nagaaki, Yamaguchi, Tomomi, Kosho, Tomoki, Sekijima, Yoshiki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623098/ https://www.ncbi.nlm.nih.gov/pubmed/37927490 http://dx.doi.org/10.1002/jmd2.12392 |
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