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Up to: Lysosomal storage disease with skeletal involvement · Familial mucolipidosis · Sialidosis
Sialidosis type 2
A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
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Congenital sialidosis type 2 0 trials
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Juvenile sialidosis type 2 0 trials