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  1. Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, et al.
    Mol Genet Metab, 2012 Sep;107(1-2):136-44.
    PMID: 22864057 DOI: 10.1016/j.ymgme.2012.07.019
    Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. It presents significant diagnostic and treatment challenges due to the rarity of the disease and complexity of the phenotype. As information about MPS VI in Asia-Pacific countries is limited, a survey was conducted to assess current practices for diagnosis and management of MPS VI in this region. The participants were selected based on their experience in diagnosing and managing MPS patients.
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