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- C Sevin, N Cartier-Lacave, and P Aubourg.
- French Institute for Health and Medical Research, Paris Descartes University and Department of Pediatric Neurology, Hôpital Saint-Vincent de Paul, Paris, France.
- Int J Clin Pharm Th. 2009 Jan 1;47 Suppl 1:S128-31.
AbstractMetachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. This review discusses the potential therapeutic application of hematopoietic stem cell gene therapy and intracerebral gene transfer (brain gene therapy) in patients with MLD.
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