Lysosomal diseases: biochemical pathways and investigations.

Abstract excerpt

This chapter summarizes our current knowledge of lysosomes and lysosomal proteins referring to recent reviews, general schemes for degradation of substrates, and various causes of lysosomal storage diseases (LSDs). It then discusses the main principles for laboratory diagnosis. Initial screening by study of accumulated substrates in urine is helpful for mucopolysaccharidoses and oligosaccharidoses. A majority of...

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