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Sphingolipid activator protein 1 deficiency
- ... ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA NCBI Gene ClinVar Al-Hassnan ZN, Al ...
- ... have been identified in people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is ... the typical signs and symptoms of GM2 activator deficiency. More About This Health Condition ganglioside GM2 activator ...
