Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

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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) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 5
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1210/jendso/bvac020
  • Dergi Adı: JOURNAL OF THE ENDOCRINE SOCIETY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Anahtar Kelimeler: SGPL1, sphingolipids, adrenal insufficiency, steroidogenesis, ovarian calcification, STABILITY CHANGES, PROTEIN STABILITY, MUTATIONS, SERVER, SGPL1, SEQUENCE
  • 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).