Title : Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

Pub. Date : 1992 Jul 15

PMID : 1637339






1 Functional Relationships(s)
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1 The role of prosaposin gene products in sphingolipid metabolism is discussed in view of our biochemical findings in this genetic disorder. Sphingolipids prosaposin Homo sapiens