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Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots

Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation of undigested glycosaminoglycans (GAGs); dermatan s...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Metab Rep
主要な著者: Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121359/
https://ncbi.nlm.nih.gov/pubmed/27896124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.10.005
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