Article
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Metabolic brain disease - 1 Sept 2009
Artigalás Osvaldo Alfonso, da Silva Luiz Roberto, Burin Maira, Pastores Gregory M, Zeng Bai, Macedo Nívea, Schwartz Ida Vanessa Doederlein
Abstract excerpt
Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease in which the activities of all sulfatases are reduced; its estimated prevalence is 1:1.4 million births. The disease is caused by mutations in SUMF1, which encodes an enzyme involved in the post-translational modification of sulfatases. The MSD phenotype is a combination of the clinical features found in diseases resulting from a deficiency...
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