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PSAP-related sphingolipidosis

A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.

0 trials tagged with this condition →

Gaucher disease due to saposin C deficiency 1 trial
Krabbe disease due to saposin A deficiency 0 trials
Combined PSAP deficiency 0 trials
Metachromatic leukodystrophy due to saposin B deficiency 0 trials