Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report

Background. Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a n...

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Hlavní autoři:	Gönül Büyükyılmaz, Keziban Toksoy Adıgüzel, Özlem Yüksel Aksoy, Çiğdem Seher Kasapkara, Gizem Ürel Demir, Engin Demir, Şule Berk Ergun, Fatih Gürbüz, Mehmet Boyraz
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Hacettepe University Institute of Child Health 2023-12-01
Edice:	The Turkish Journal of Pediatrics
Témata:	Nephrotic syndrome Ptosis Sphingosine phosphate lyase insufficiency syndrome adrenal insufficiency sphingolipids
On-line přístup:	https://turkjpediatr.org/article/view/114
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!