Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate...

詳細記述

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書誌詳細
出版年:Mol Genet Metab
主要な著者: Peracha, Hira, Sawamoto, Kazuki, Averill, Lauren, Kecskemethy, Heidi, Theroux, Mary, Thacker, Mihir, Nagao, Kyoko, Pizarro, Christian, Mackenzie, William, Kobayashi, Hironori, Yamaguchi, Seiji, Suzuki, Yasuyuki, Orii, Kenji, Orii, Tadao, Fukao, Toshiyuki, Tomatsu, Shunji
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175643/
https://ncbi.nlm.nih.gov/pubmed/29779902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.05.004
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