Atıf İçin Kopyala
TAŞTEMEL ÖZTÜRK T., CANPOLAT N., SAYGILI S. K., BAYRAKCİ U. S., Soylemezoglu O., ÖZALTIN F., ...Daha Fazla
PEDIATRIC NEPHROLOGY, cilt.38, sa.3, ss.711-719, 2023 (SCI-Expanded)
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Yayın Türü:
Makale / Derleme
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Cilt numarası:
38
Sayı:
3
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Basım Tarihi:
2023
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Doi Numarası:
10.1007/s00467-022-05656-5
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Dergi Adı:
PEDIATRIC NEPHROLOGY
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
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Sayfa Sayıları:
ss.711-719
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Anahtar Kelimeler:
Sphingosine-1-phosphate lyase, SGPL1, Nephrotic syndrome, Sphingolipidosis, Adrenal insufficiency, SPHINGOSINE 1-PHOSPHATE, ADRENAL INSUFFICIENCY, MUTATIONS
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Hacettepe Üniversitesi Adresli:
Evet
Özet
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.