Article
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
The Turkish journal of pediatrics - 1 Jan 2000
Nur Banu Güzel, Mıhçı Ercan, Pepe Stefano, Biberoğlu Gürsel, Ezgü Fatih Süheyl, Ballabio Andrea, Öztekin Osman, Dursun Oğuz
Abstract excerpt
Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases. There are different types of multiple sulfatase deficiency; among them, the neonatal form is the most severe, with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. The disorder is caused by...
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