Article

Clinical Presentation and Management Challenges of Sphingosine-1-phosphate Lyase Insufficiency Syndrome Associated with an SGPL1 Variant: A Case Report

2024-10-30

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<title>Abstract</title> <p><bold>Background</bold>: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition. <bold>Case Presentation</bold>: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal...

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Literature Corpus work: 5546f483-6bae-5f23-a91e-c02931fbf82d
DOI: 10.21203/rs.3.rs-5099132/v1

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