Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
Avinaash V MaharajTülay GüranFederica BuonocoreJohn C AchermannLouise A MetherellRathi PrasadSemra CetinkayaPublished in: Journal of the Endocrine Society (2022)
SGPL1 deficiency should be considered in the differential diagnosis of PAI with close attention paid to evolving disease on follow-up.
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