Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sphingosine phosphate lyase insufficiency syndrome: a systematic review.

World journal of pediatrics : WJP - 1 May 2023

Pournasiri Zahra, Madani Abbas, Nazarpack Fatemeh, Sayer John A, Chavoshzadeh Zahra, Nili Fatemeh, Tran Paulina, Saba Julie D, Jamee Mahnaz

Abstract excerpt

BACKGROUND: Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1. Here, we conducted a systematic review to delineate the characteristics of SPLIS patients. METHODS: A literature search was performed in PubMed, Web of Science, and Scopus databases, and eligible studies were included. For all patients, demographic, clinical,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Infant
Share to Kidney Failure, Chronic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lyases

Share to Mutation

Share to Nephrotic Syndrome

Share to Phosphates

Share to Sphingosine

Source

Identifiers

PMID: 36371483
DOI: 10.1007/s12519-022-00615-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sphingosine phosphate lyase insufficiency syndrome: a systematic review.PMID 36371483Read ↗

Clinical Presentation and Management Challenges of Sphingosine-1-phosphate Lyase Insufficiency Syndrome Associated with an SGPL1 Variant: A Case ReportSemantic proximity Read ↗

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple EndocrinopathySemantic proximity Read ↗

Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.Semantic proximity Read ↗

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndromeSemantic proximity Read ↗

SGPL1 Deficiency: A Rare Cause of Primary Adrenal InsufficiencySemantic proximity Read ↗

Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.Semantic proximity Read ↗

Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome: A Retrospective Cross-Sectional Study of 76 PatientsSemantic proximity Read ↗

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.Semantic proximity Read ↗

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Semantic proximity Read ↗

Genotype/Phenotype Interactions and First Steps Toward Targeted Therapy for Sphingosine Phosphate Lyase Insufficiency Syndrome.Semantic proximity Read ↗

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.Semantic proximity Read ↗

Disrupted Sphingosine-1-Phosphate Homeostasis Drives Nephrotoxicity in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome (SPLIS)Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.