Atıf İçin Kopyala
Maharaj A., Güran T., Buonocore F., Achermann J. C., Metherell L., Prasad R., ...Daha Fazla
JOURNAL OF THE ENDOCRINE SOCIETY, cilt.6, sa.5, 2022 (ESCI)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
6
Sayı:
5
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Basım Tarihi:
2022
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Doi Numarası:
10.1210/jendso/bvac020
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Dergi Adı:
JOURNAL OF THE ENDOCRINE SOCIETY
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Derginin Tarandığı İndeksler:
Emerging Sources Citation Index (ESCI), Scopus
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Anahtar Kelimeler:
SGPL1, sphingolipids, adrenal insufficiency, steroidogenesis, ovarian calcification, STABILITY CHANGES, PROTEIN STABILITY, MUTATIONS, SERVER, SGPL1, SEQUENCE
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Marmara Üniversitesi Adresli:
Evet
Özet
Introduction Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is a multisystemic disorder which, in the main, incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency (PAI).