Title of article :
Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report
Author/Authors :
Khanzadeh ، Shokoufeh Student Research Committee - Tabriz University of Medical Sciences , babaei ، meisam Department of pediatrics - North Khorasan University of Medical Sciences , Imanpour ، Parvin Clinical Research Development Unit of Children Hospital - Tabriz University of Medical Sciences , Sadeghvand ، Shahram Department of Pediatrics - Tabriz University of Medical Sciences
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 studies, although this figure is likely an underestimation due to under-reporting and under-recognition. The present report shows the genetic and clinical aspects of a patient with MSD in comparison to the previously reported patients.
Keywords :
lysosomal storage disease , Multiple sulfatase deficiency , SUMF1 gene
Journal title :
International Journal of Pediatrics
Journal title :
International Journal of Pediatrics
