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Precision Treatment of Tuberous Sclerosis Complex: A Case Report of Sirolimus Toxicity in a CYP3A5 Poor Metabolizer Neonate and Pharmacogenomic Literature Review

2026-08-28

Abstract excerpt

<title>Abstract</title> <p> Background Tuberous sclerosis complex (TSC) is a rare multisystem disorder resulting from pathogenic mutations in the <italic>TSC1 and TSC</italic> 2 genes, which induce constitutive hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway. As a first-line targeted therapeutic agent for TSC, the mTOR inhibitor sirolimus is characterized by a narrow therapeutic...

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Literature Corpus work: ec8bde9c-a081-501c-bbcb-97ba34fc8ee8
DOI: 10.21203/rs.3.rs-10703781/v1

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