| Title : beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum - Ishibashi_1984_Arch.Dermatol_120_1344 |
| Author(s) : Ishibashi A , Tsuboi R , Shinmei M |
| Ref : Arch Dermatol , 120 :1344 , 1984 |
|
Abstract :
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. |
| PubMedSearch : Ishibashi_1984_Arch.Dermatol_120_1344 |
| PubMedID: 6435542 |
| Gene_locus related to this paper: human-CTSA |
| Gene_locus | human-CTSA |
| Disease | Galactosialidosis |
Ishibashi A, Tsuboi R, Shinmei M (1984)
beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum
Arch Dermatol
120 :1344
Ishibashi A, Tsuboi R, Shinmei M (1984)
Arch Dermatol
120 :1344