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Updated: May 24, 2026

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Published on: June 25, 2010
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders
Ian E Alexander1, Cindy Kok, Allison P Dane
1Gene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. ian.alexander@health.nsw.gov.au
Abstract:
Many metabolic diseases are compelling candidates for gene therapy, and are the subject of vigorous pre-clinical research. Successful phenotype correction in mouse models is now commonplace and research effort is increasingly being directed towards addressing the translational challenges inherent in human clinical trials. This paper places current efforts to develop gene therapy approaches to metabolic disease in historical context and describes contemporary research in the authors' laboratory on urea cycle defects, particularly ornithine transcarbamylase deficiency, in a manner that is illustrative of the general state of the field.
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