Below are the most recent publications written about "Mucopolysaccharidosis I" by people in Profiles.
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Donsante S, Pievani A, Palmisano B, Finamore M, Fazio G, Corsi A, Biondi A, Tomatsu S, Piazza R, Serafini M, Riminucci M. Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells. JCI Insight. 2024 Mar 08; 9(5).
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Santi L, De Ponti G, Dina G, Pievani A, Corsi A, Riminucci M, Khan S, Sawamoto K, Antolini L, Gregori S, Annoni A, Biondi A, Quattrini A, Tomatsu S, Serafini M. Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model. Mol Genet Metab. 2020 07; 130(3):197-208.
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Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet. 2020 Jul; 65(7):557-567.
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Oguni T, Tomatsu S, Tanaka M, Orii K, Fukao T, Watanabe J, Fukuda S, Notsu Y, Vu DC, Can TBN, Nagai A, Yamaguchi S, Taketani T, Gelb MH, Kobayashi H. Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses. Int J Mol Sci. 2020 Mar 16; 21(6).
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Gomez-Ospina N, Scharenberg SG, Mostrel N, Bak RO, Mantri S, Quadros RM, Gurumurthy CB, Lee C, Bao G, Suarez CJ, Khan S, Sawamoto K, Tomatsu S, Raj N, Attardi LD, Aurelian L, Porteus MH. Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nat Commun. 2019 09 06; 10(1):4045.
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Azario I, Pievani A, Del Priore F, Antolini L, Santi L, Corsi A, Cardinale L, Sawamoto K, Kubaski F, Gentner B, Bernardo ME, Valsecchi MG, Riminucci M, Tomatsu S, Aiuti A, Biondi A, Serafini M. Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Sci Rep. 2017 08 25; 7(1):9473.
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Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 07; 121(3):227-240.
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Simonaro CM, Tomatsu S, Sikora T, Kubaski F, Frohbergh M, Guevara JM, Wang RY, Vera M, Kang JL, Smith LJ, Schuchman EH, Haskins ME. Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs. PLoS One. 2016; 11(4):e0153136.
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Pievani A, Azario I, Antolini L, Shimada T, Patel P, Remoli C, Rambaldi B, Valsecchi MG, Riminucci M, Biondi A, Tomatsu S, Serafini M. Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I. Blood. 2015 Mar 05; 125(10):1662-71.
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Nan Z, Shekels L, Ryabinin O, Evavold C, Nelson MS, Khan SA, Deans RJ, Mays RW, Low WC, Gupta P. Intracerebroventricular transplantation of human bone marrow-derived multipotent progenitor cells in an immunodeficient mouse model of mucopolysaccharidosis type I (MPS-I). Cell Transplant. 2012; 21(7):1577-93.