1. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease;Bradova;Hum Genet,1993
2. Accumulation of sphingolipids in SAP precursor (prosaposin) deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor;Burkhardt;Eur J Biochem,1997
3. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro-absence of one of them in a human Gaucher disease variant;Christomanou;Biol Chem Hoppe-Seyler,1986
4. Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease;Cohen-Tannoudji;Mammalian Genome,1995
5. Partial enzyme deficiencies: residual activities and the development of neurological disorders;Conzelmann;Dev Neurosci,1983