Lysosomal storage disorders: old diseases, present and future challenges.

Abstract excerpt

Lysosomal storage diseases (LSDs), which are inborn errors of metabolism, encompass around 50 different inherited syndromes. Together, they have an incidence of 1/7000 newborns. LSDs are caused by deficiencies in lysosomal enzymes or transporters, resulting in intra-lysosomal buildup of under graded metabolites. Common features of LSDs include bone disease, organomegaly and central and peripheral nervous system...

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