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Keywords = SUMF1 gene

Number of Articles: 1
Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report
Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report

Shokoufeh Khanzadeh; meisam babaei; Parvin Imanpour; Shahram Sadeghvand

Volume 9, Issue 12 , December 2021, , Pages 15047-15053

https://doi.org/10.22038/ijp.2021.57775.4532

Abstract
  Multiple sulfatase deficiency (MSD) is a very rare Lysosomal Storage Disease (LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous ...  Read More