| pubmed-article:607839 | pubmed:abstractText | We have studied a child 10 years old with a defficit of alpha-fucosidase demonstrated in the urine, serum, tears and fibroblasts culture. The clinical evolution and the presence of a "angiokeratom corporis diffusum" permits one to diagnose the patient in the type 2 fucosidosis. We have revised the clinical features, the exigible criteria for biochemical diagnosis, the histopathological findings, ultrastructural alterations and the genetic aspects; specially the behaviour of the H substance and Lewis in the red cell and saliva. | lld:pubmed |
