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Newborn screening and diagnosis of mucopolysaccharidosesTomatsu, Shunji ; Fujii, Tadashi ; Fukushi, Masaru ; Oguma, Toshihiro ; Shimada, Tsutomu ; Maeda, Miho ; Kida, Kazuhiro ; Shibata, Yuniko ; Futatsumori, Hideyuki ; Montaño, Adriana M. ; Mason, Robert W. ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, TadaoMolecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.42-53 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Pathogenesis of Mucopolysaccharidoses, an UpdateFecarotta, Simona ; Tarallo, Antonietta ; Damiano, Carla ; Minopoli, Nadia ; Parenti, GiancarloInternational journal of molecular sciences, 2020-04, Vol.21 (7), p.2515 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Gene-Based Approaches to Inherited Neurometabolic DiseasesPoletti, Valentina ; Biffi, AlessandraHuman gene therapy, 2019-10, Vol.30 (10), p.1222-1235 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |
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Material Type: Artigo
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Transcriptomic analyses suggest that mucopolysaccharidosis patients may be less susceptible to COVID‐19Pierzynowska, Karolina ; Gaffke, Lidia ; Węgrzyn, GrzegorzFEBS letters, 2020-10, Vol.594 (20), p.3363-3370 [Periódico revisado por pares]England: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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Estimated birth prevalence of mucopolysaccharidoses in BrazilFederhen, Andressa ; Pasqualim, Gabriela ; Freitas, Talita Freitas ; Gonzalez, Esteban Alberto ; Trapp, Franciele ; Matte, Ursula ; Giugliani, RobertoAmerican journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.469-483 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Less Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersCoutinho, Maria Francisca ; Santos, Juliana Inês ; Alves, SandraInternational Journal of Molecular Sciences, 2016-07, Vol.17 (7), p.1065-1065 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Newborn screening of mucopolysaccharidoses: past, present, and futureArunkumar, Nivethitha ; Langan, Thomas J ; Stapleton, Molly ; Kubaski, Francyne ; Mason, Robert W ; Singh, Rajendra ; Kobayashi, Hironori ; Yamaguchi, Seiji ; Suzuki, Yasuyuki ; Orii, Kenji ; Orii, Tadao ; Fukao, Toshiyuki ; Tomatsu, ShunjiJournal of human genetics, 2020-07, Vol.65 (7), p.557-567 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in MucopolysaccharidosesGaffke, Lidia ; Pierzynowska, Karolina ; Rintz, Estera ; Cyske, Zuzanna ; Giecewicz, Izabela ; Węgrzyn, GrzegorzInternational journal of molecular sciences, 2021-03, Vol.22 (5), p.2766 [Periódico revisado por pares]Switzerland: MDPITexto completo disponível |
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Material Type: Artigo
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Involvement of the Toll-like receptor 4 pathway and use of TNF-α antagonists for treatment of the mucopolysaccharidosesSimonaro, Calogera M ; Ge, Yi ; Eliyahu, Efrat ; He, Xingxuan ; Jepsen, Karl J ; Schuchman, Edward HProceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (1), p.222-227 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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The experiences and support needs of siblings of people with mucopolysaccharidosisGrant, Nathan ; Von Handorf, Rebecca ; Karaa, Amel ; Skotko, Brian G.American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3418-3426 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |