FACTORS INFLUENCING SURVIVAL IN SPHINGOSINE PHOSPHATE LYASE INSUFFICIENCY SYNDROME: A RETROSPECTIVE CROSS-SECTIONAL NATURAL HISTORY STUDY OF 76 PATIENTS

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients

Abstract Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurological, and skin manifestations.SPLIS is caused by inactivating mutations in SGPL1, encoding the pyridoxal

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