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...

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Detalles Bibliográficos
Autores principales: Hanafusa, Hiroaki, Nakamura, Katsuya, Kamijo, Yuji, Kitahara, Masashi, Ehara, Takashi, Yoshinaga, Tsuneaki, Aoki, Kaoru, Katoh, Nagaaki, Yamaguchi, Tomomi, Kosho, Tomoki, Sekijima, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
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

Internet

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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