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
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.
Sedillo JC et al.
Genetics in Medicine Open, 2024
A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.
Tastemel Ozturk T et al.
Pediatric Nephrology (berlin, Germany), 2023
Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: Case report and literature review.
Yang S et al.
Frontiers in Pediatrics, 2023
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
Roa-Bautista A et al.
Frontiers in 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
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A et al.
Endocrine Connections, 2022
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Maharaj A et al.
Frontiers in Pediatrics, 2020
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism.
Choi YJ et al.
Advances in Biological Regulation, 2019
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
Linhares ND et al.
Clinical Kidney Journal, 2018
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