Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

• Váldodahkkit: Jayesh Sheth (Dahkki), Siddharth Shah (Dahkki), Chaitanya Datar (Dahkki), Kaveri Bhatt (Dahkki), Pooja Raval (Dahkki), Aadhira Nair (Dahkki), Deepika Jain (Dahkki), Jhanvi Shah (Dahkki), Frenny Sheth (Dahkki), Harsh Sheth (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2023-03-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected pa...