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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. Th...

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Detalles Bibliográficos
Autores principales:	Contreras, Josefina Longeri, Ladino, Mabel A., Aránguiz, Katherine, Mendez, Gonzalo P., Coban-Akdemir, Zeynep, Yuan, Bo, Gibbs, Richard A., Burrage, Lindsay C., Lupski, James R., Chinn, Ivan K., Vogel, Tiphanie P., Orange, Jordan S., Poli, M. Cecilia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172984/ https://www.ncbi.nlm.nih.gov/pubmed/34095032 http://dx.doi.org/10.3389/fped.2021.673957

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