| Autor: |
T T, Tang, N B, Esterly, M S, Lubinsky, H W, Oechler, J M, Harb, R A, Franciosi |
| Rok vydání: |
1993 |
| Předmět: |
|
| Zdroj: |
Acta dermato-venereologica. 73(6) |
| ISSN: |
0001-5555 |
| Popis: |
GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of coarse facial feature, foamy endothelial cells in the cutaneous blood vessels and ectopic Mongolian spots, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. Thus, a battery of enzyme tests may be averted. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
