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

dc.contributor.authorÖZALTIN, FATİH
dc.contributor.authorTAŞTEMEL ÖZTÜRK, TUĞBA
dc.contributor.authorCANPOLAT, NUR
dc.contributor.authorSAYGILI, Seha Kamil
dc.contributor.authorBAYRAKCİ, UMUT SELDA
dc.contributor.authorSoylemezoglu, Oguz
dc.contributor.authorTOPALOĞLU, REZAN
dc.date.accessioned2023-02-21T07:38:37Z
dc.date.available2023-02-21T07:38:37Z
dc.date.issued2023
dc.identifier.citationTAŞTEMEL ÖZTÜRK T., CANPOLAT N., SAYGILI S. K., BAYRAKCİ U. S., Soylemezoglu O., ÖZALTIN F., TOPALOĞLU R., "A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature", PEDIATRIC NEPHROLOGY, cilt.38, sa.3, ss.711-719, 2023
dc.identifier.issn0931-041X
dc.identifier.othervv_1032021
dc.identifier.otherav_0a36e17f-779a-4136-952b-1f372521288c
dc.identifier.urihttp://hdl.handle.net/20.500.12627/185973
dc.identifier.urihttps://doi.org/10.1007/s00467-022-05656-5
dc.description.abstractBackground Recently, recessive mutations in SGPL1 (sphingosine-1-phosphate lyase), which encodes the final enzyme of sphingolipid metabolism, have been reported to cause steroid-resistant nephrotic syndrome, adrenal insufficiency, and many other organ/system involvements. We aimed to determine the clinical and genetic characteristics, and outcomes in patients with SGPL1 mutations.
dc.language.isoeng
dc.subjectPediatrics
dc.subjectNephrology
dc.subjectUrology
dc.subjectPediatrics, Perinatology and Child Health
dc.subjectHealth Sciences
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectÜROLOJİ VE NEFROLOJİ
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.subjectİç Hastalıkları
dc.subjectNefroloji
dc.subjectPEDİATRİ
dc.titleA rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature
dc.typeMakale
dc.relation.journalPEDIATRIC NEPHROLOGY
dc.contributor.departmentHacettepe Üniversitesi , Tıp Fakültesi (Türkçe) , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume38
dc.identifier.issue3
dc.identifier.startpage711
dc.identifier.endpage719
dc.contributor.firstauthorID3435200


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