Paper Report for: Ishibashi_1984_Arch.Dermatol_120_1344
Reference
Title: beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum Ishibashi A, Tsuboi R, Shinmei M Ref: Arch Dermatol, 120:1344, 1984 : PubMed
A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while alpha-galactosidase and alpha-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.
Ishibashi A, Tsuboi R, Shinmei M (1984) beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum Arch Dermatol120: 1344-6
Ishibashi A, Tsuboi R, Shinmei M (1984) Arch Dermatol120: 1344-6