Title |
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
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Published in |
Orphanet Journal of Rare Diseases, September 2013
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DOI | 10.1186/1750-1172-8-134 |
Pubmed ID | |
Authors |
Sandra Jester, Julia Larsson, Erik A Eklund, Domniki Papadopoulou, Jan-Eric Månsson, Albert N Békássy, Dominik Turkiewicz, Jacek Toporski, Ingrid Øra |
Abstract |
Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is preferred to hematopoietic stem cell transplantation (SCT) due to the treatment-related risks of the latter. However, ERT constitutes an expensive life-long treatment. Increased experience and safety of SCT-procedures in recent years suggest that SCT should be further explored as a treatment option.This is the first report on haploidentical SCT in patients with MPS VI. The primary objective was to assess the treatment safety and clinical and biochemical outcome. |
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Spain | 1 | 20% |
Mexico | 1 | 20% |
United States | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
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Scientists | 1 | 20% |
Mendeley readers
Geographical breakdown
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Student > Master | 6 | 19% |
Student > Doctoral Student | 5 | 16% |
Researcher | 5 | 16% |
Student > Bachelor | 4 | 13% |
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Social Sciences | 2 | 6% |
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