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BACKGROUND Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-blood filter paper samples. We(More)
BACKGROUND Mucopolysaccharidosis type I (MPS I) is a disease caused by deficiency of the enzyme alpha-L-iduronidase (IDUA). Since no treatment is currently available for this disorder, the detection(More)
OBJECTIVES The aim of the present work was to establish the range of chitotriosidase (CT) activity in normal individuals (controls), patients with Gaucher disease (GD), GM1-gangliosidosis (GM1),(More)