Associated Papers
Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report.
Saeedi V et al.
Bmc Pediatrics, 2025
Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
Keller N et al.
Orphanet Journal of Rare Diseases, 2024
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.
Sedillo JC et al.
Genetics in Medicine Open, 2024
SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.
Tran P et al.
Journal of Clinical Immunology, 2023
Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
Ron HA et al.
American Journal of Medical Genetics. Part A, 2022
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