DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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References

Bradová V, Smíd F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K.
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.

Hum Genet 1993;
92 (02) 143-152

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