Sphingosine phosphate lyase insufficiency syndrome: a systematic review.
Zahra PournasiriAbbas MadaniFatemeh NazarpackJohn Andrew SayerZahra ChavoshzadehFatemeh NiliPaulina TranJulie D SabaMahnaz JameePublished in: World journal of pediatrics : WJP (2022)
In patients with PAI and/or SRNS, SGPL1 should be added to diagnostic genetic panels, which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.