Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To improve knowledge...

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書誌詳細
主要な著者: Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Netherlands 2010
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2992652/
https://ncbi.nlm.nih.gov/pubmed/20852935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9199-y
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