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
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
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A et al.
Endocrine Connections, 2022
Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency-a rare cause: Answers.
Mathew G et al.
Pediatric Nephrology (berlin, Germany), 2022
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
Fifty years of lyase and a moment of truth: sphingosine phosphate lyase from discovery to disease.
Saba JD
Journal of Lipid Research, 2019
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.
Linhares ND et al.
Clinical Kidney Journal, 2018
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.
Bamborschke D et al.
Brain & Development, 2018
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
29026114 (PubMed )
Supplement: 41467_2017_1026_MOESM5_ESM.xlsx › ST2
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S et al.
The Journal of Clinical Investigation, 2017
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