Systematic approach to the diagnosis of lysosomal storage disorders.

Abstract excerpt

Disorders that arise as a result of lysosomal dysfunction represent some of the most challenging diagnostic problems in medicine. Not only are these disorders infrequently seen, but they may also present with signs and symptoms that mimic perinatal injury, food intolerance, or the sequellae of neonatal infection. Misidentification can lead to significant delay in diagnosis. Ironically, as the prevailing economic...

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