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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Bibliografiske detaljer
Main Authors:	Dũng, Vu Chi, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao
Format:	Artigo
Sprog:	Inglês
Udgivet:	2013
Fag:	Article
Online adgang:	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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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels

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