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. 1982 May;34(3):434–443.

Placental steroid deficiency: association with arylsulfatase A deficiency.

J Vidgoff, M M Buxman, L J Shapiro, R L Dimond, T G Wilson, C A Hepburn, T Tabei, W R Heinrichs
PMCID: PMC1685342  PMID: 6123259

Abstract

A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis. Steroid sulfatase deficiency was confirmed in placenta, leukocytes, and cultured skin fibroblasts of affected males; arylsulfatase A diminution was also observed in these tissues of both affected males and 2 generations of related females. No symptoms of metachromatic leukodystrophy are present in any family members. In this family, placental sulfatase deficiency, and arylsulfatase A pseudodeficiency are nonallelic.

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Selected References

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