Associated Papers
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
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
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
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
Maharaj A et al.
Journal of the Endocrine Society, 2022
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction.
Maharaj A et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2020
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Maharaj A et al.
Frontiers in Pediatrics, 2020
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
Linhares ND et al.
Clinical Kidney Journal, 2018
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R et al.
The Journal of Clinical Investigation, 2017
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