Newborn Screening for Lysosomal Storage Disorders: Current Issues and Approaches

Peter J Meikle and John J Hopwood
Children, Youth and Women’s Health Service, Adelaide, SA, Australia

Lysosomal storage diseases (LSDs) represent a group of at least 50 distinct genetic disorders [1], each one resulting from a deficiency of a particular lysosomal protein activity or, in a few cases, from non-lysosomal activities that are involved in lysosomal biogenesis or protein maturation.
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