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Diseases

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Multiple sulfatase deficiency


Multiple Sulfatase Deficiency

General: Autosomal recessive

Ocular Congenital peripheral cataract; retinal degeneration; cherry red-spot of macula

Clinical: Progressive neurologic disease with death in the teenage years; ichthysis



Johnson JL: prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidate deficiency. Prenat Diag 2003; 23: 6-




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