Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

Abstract 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 deficien...

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Detalhes bibliográficos

Principais autores:	Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2023-11-01
Colecção:	JIMD Reports
Assuntos:	Fanconi syndrome lysinuric protein intolerance renal tubular acidosis SLC7A7
Acesso em linha:	https://doi.org/10.1002/jmd2.12392
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