Article

Lysinuric protein intolerance associated systemic lupus erythematosus with new mutations in the SLC7A7 gene

2022-11-30

Abstract excerpt

<h4>Background: </h4> Lysinuric protein tolerance (LPI) is a rare autosomal, recessive, metabolic disease caused by mutations in the SLC7A7 gene. It was first reported in the Finnish population in 1965, and involved multiple organ systems like the digestive, blood, respiratory, nervous, urinary and other systems, due to a defect in the transport of the dialkylamino acid plasma membrane. Case presentation: A girl...

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Literature Corpus work: db0e7a0c-ae89-549a-ac90-a5eb6fe6b79b
DOI: 10.22541/au.166979239.91936328/v1

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