فهرست نشریات علمی دسترسی آزاد ایران

Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-L-fucosidase which results in accumulation of fucose rich glycoproteins and glycolipids within the lysosomes in skin, peripheral nerves, brain, heart, and other visceral organs. It is caused by biallelic pathogenic variants in FUCA1 gene localized on chromosome 1p36.11 which causes deficiency of alpha-L-fucosidase.