ABSTRACT
Progressive mucopolysaccharidosis-like disease with developmental impairment, shortness of stature, coarse features, hepatosplenomegaly and dysostosis multiplex, hypohidrosis, increased sweat chloride; angiokeratomas; vacuolated lymphocytes; glycolipid storage and oligosaccharide and glycopeptide excretion; and defective activity of α-fucosidase.
