Laboratory diagnosis of lysosomal storage diseases: new potentials

Significant progress has been achieved over the past few years in the treatment of some lysosomal storage diseases (Gaucher's disease type I, Fabry's disease, Mucopolysaccharidosis, Pompe's disease). This study considers the potentials of treatment monitoring in patients on enzyme replacement therapy by means of adequate biomarkers, as well as new laboratory possibilities for newborn screening for lysosomal storage diseases.
Keywords: LYSOSOMAL STORAGE DISEASES – diagnosis, therapy; BIOLOGICAL MARKERS – analysis; ENZYMES – therapeutic use
Category: Review
Volume: Vol. 49, No 3, july - september 2005
Authors: K. Fumić
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