Article

Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-Sectional Study of 76 Patients

2024-02-07

Abstract excerpt

<title>Abstract</title> Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized metabolic disorder associated with kidney, endocrine, immunological, neurological, and skin manifestations. SPLIS is caused by inactivating mutations in <italic>SGPL1</italic>, encoding the enzyme sphingosine-1-phosphate lyase, which catalyzes the final step of sphingolipid metabolism. Targ...

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Literature Corpus work: 69fbf101-cd7d-5db7-a2cf-53db087f32a9
DOI: 10.21203/rs.3.rs-3678833/v1

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