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Lysosomal diseases

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The journal Molecular Genetics and Metabolism Reports has published an article about lysosomal diseases (LD) LD comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between 1 in 4000 to 1 in 13,000 live births, with recent data from pilot newborn screening studies showing even higher incidence. The full-text article you can read here.

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