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
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
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
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
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
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
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
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
Settas N et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S et al.
The Journal of Clinical Investigation, 2017
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R et al.
The Journal of Clinical Investigation, 2017
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.
Merlevede J et al.
Nature Communications, 2016