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New concepts in the diagnosis and treatment of lysosomal and peroxisomal disorders.

For the 36 known lysosomal disorders the main diagnostic advance is the identification of the gene defect with the demonstration of heterogeneity for each. Therapies that involve enzyme replacement or bone marrow transplantation are evolving. An increasing number of peroxisomal disorders are being identified. Combined liver-kidney transplantation are beneficial for hyperoxaluria type I, and dietary therapy and bone marrow transplantation appear to benefit patients with X-linked adrenoleukodystrophy.