نتایج جستجو برای: angiokeratoma
تعداد نتایج: 229 فیلتر نتایج به سال:
Fabry disease is a X-linked lysosomal storage disorder due to alpha galactosidase A deficiency leading to abnormal accumulation of glycosphingolipids in different parts of body. This case report introduces a 35-year-old man with diffuse keratotic erythematous papules. Histopathological evaluation of the skin biopsy suggested the diagnosis of angiokeratoma. With attention to his nephropathy and ...
Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a boy with this disorder. Developmental delay, skeletal deformities and mild coarsening of the face ...
In Fabry disease, an X-linked lysosomal storage disorder, deficient activity of the enzyme α-galactosidase A (α-Gal A) [6, 22] leads to intracellular accumulation of globotriaosylceramide predominantly in the vascular tissue, eye, skin, kidney, heart, and nervous system [7, 10]. Disease prevalence is estimated between 1:40,000 and 1:117,000 live births [27]. If later-onset variant phenotypes ar...
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