Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

Mucopolysaccharidosis IVA (MPS IVA) is caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to systemic skeletal dysplasia because of excessive storage of keratan sulfate (KS) in chondrocytes. In an effort to determine a precise prognosis and personalized treatment, we...

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書誌詳細
主要な著者: Dũng, Vu Chi, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3779837/
https://ncbi.nlm.nih.gov/pubmed/23876334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.06.008
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