dc.contributor.author | ÖZALTIN, FATİH | |
dc.contributor.author | TAŞTEMEL ÖZTÜRK, TUĞBA | |
dc.contributor.author | CANPOLAT, NUR | |
dc.contributor.author | SAYGILI, Seha Kamil | |
dc.contributor.author | BAYRAKCİ, UMUT SELDA | |
dc.contributor.author | Soylemezoglu, Oguz | |
dc.contributor.author | TOPALOĞLU, REZAN | |
dc.date.accessioned | 2023-02-21T07:38:37Z | |
dc.date.available | 2023-02-21T07:38:37Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | TAŞTEMEL 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.issn | 0931-041X | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_0a36e17f-779a-4136-952b-1f372521288c | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/185973 | |
dc.identifier.uri | https://doi.org/10.1007/s00467-022-05656-5 | |
dc.description.abstract | Background 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.iso | eng | |
dc.subject | Pediatrics | |
dc.subject | Nephrology | |
dc.subject | Urology | |
dc.subject | Pediatrics, Perinatology and Child Health | |
dc.subject | Health Sciences | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | ÜROLOJİ VE NEFROLOJİ | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | İç Hastalıkları | |
dc.subject | Nefroloji | |
dc.subject | PEDİATRİ | |
dc.title | A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature | |
dc.type | Makale | |
dc.relation.journal | PEDIATRIC NEPHROLOGY | |
dc.contributor.department | Hacettepe Üniversitesi , Tıp Fakültesi (Türkçe) , Dahili Tıp Bilimleri Bölümü | |
dc.identifier.volume | 38 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 711 | |
dc.identifier.endpage | 719 | |
dc.contributor.firstauthorID | 3435200 | |