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
Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
Pournasiri Z et al.
World Journal of Pediatrics : Wjp, 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
Genotype/Phenotype Interactions and First Steps Toward Targeted Therapy for Sphingosine Phosphate Lyase Insufficiency Syndrome.
Saba JD et al.
Cell Biochemistry and Biophysics, 2021
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.
Martin KW et al.
Ajnr. American Journal of Neuroradiology, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
Zhao P et al.
Journal of Inherited Metabolic Disease, 2020
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Maharaj A et al.
Frontiers in Pediatrics, 2020
Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome.
Taylor VA et al.
Kidney International Reports, 2019
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