Wilson's disease, genetic and neonatal hemochromatosis, protoporphyria, tyrosinemia, and alpha1-antitrypsin deficiency are updated. Cost effectiveness of screening is discussed. Current therapies are evaluated, including the role of transplantation. The molecular biologic technique PCR is covered. Gene therapy is introduced.
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| http://dx.doi.org/10.1016/s0031-3955(05)70396-5 | DOI Listing |
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