Associated Papers
Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.
Sedillo JC et al.
Genetics in Medicine Open, 2024
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
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR et al.
Human Mutation, 2017
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