A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature

Ozturk, TT; Canpolat, N; Saygili, S; Bayrakci, US; Soylemezoglu, O; Ozaltin, F; Topaloglu, R

Ozturk, TT (通讯作者),Hacettepe Univ, Dept Pediat Nephrol, Fac Med, TR-06100 Ankara, Turkey.

PEDIATRIC NEPHROLOGY, 2023; 38 (3): 711

Abstract

Background Recently, recessive mutations in SGPL1 (sphingosine-1-phosphate lyase), which encodes the final enzyme of sphingolipid metabolism, have bee......

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