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Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations

Joni C. Sedillo, Chansonette Badduke,Steven J. Schrodi,Vinod Scaria,Onur Emre Onat,Majid Alfadhel,Carole Ober,William Wentworth-Sheilds,Robert D. Steiner,Julie D. Saba

Genetics in Medicine Open（2024）

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Key words
Adrenal insufficiency,Nephrotic syndrome,SGPL1,Sphingosine phosphate lyase insufficiency syndrome,Sphingosine-1-phosphate
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