Rare Saposin A deficiency: Novel variant and psychosine analysis.
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DOI: 10.1016/j.ymgme.2019.08.001
Abstract: Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A… read more here.
Keywords: psychosine; deficiency; saposin deficiency; saposin ... See more keywords