Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report
Abstract Background 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. Case presentation A 2-year-old Iranian female pre...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-024-05311-y |
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