Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report | ||
| Journal of Pediatric Perspectives | ||
| مقاله 13، دوره 9، شماره 12، اسفند 2021، صفحه 15047-15053 اصل مقاله (1.01 M) | ||
| شناسه دیجیتال (DOI): 10.22038/ijp.2021.57775.4532 | ||
| نویسندگان | ||
| Shokoufeh Khanzadeh1؛ meisam babaei2؛ Parvin Imanpour3؛ Shahram Sadeghvand* 4 | ||
| 1Student Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran. | ||
| 2Department of pediatrics,North Khorasan University of Medical Sciences,Bojnurd,Iran | ||
| 3Clinical Research Development Unit of Children Hospital Tabriz University of Medical Sciences, Tabriz, Iran | ||
| 4Department of Pediatrics, Tabriz University of Medical Sciences, Tabriz, Iran. | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| Lysosomal storage disease؛ Multiple sulfatase deficiency؛ SUMF1 gene | ||
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