Screening for lysosomal disorders.

Autor: Ullrich, K.
Zdroj: European Journal of Pediatrics; 1994 Supplement, Vol. 153 Issue 1, pS38-S43, 1p
Abstrakt: Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening. Morphological and biochemical screening methods may reinforce the clinical suspicion, but they are not diagnostic. A widespread use of enzyme assays that appear to be related to the clinical problems is recommented. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index