Below are the most recent publications written about "Mucopolysaccharidosis VII" by people in Profiles.
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Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 05; 40(6):738-745.
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Kubaski F, Brusius-Facchin AC, Mason RW, Patel P, Burin MG, Michelin-Tirelli K, Kessler RG, Bender F, Leistner-Segal S, Moreno CA, Cavalcanti DP, Giugliani R, Tomatsu S. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenat Diagn. 2017 May; 37(5):435-439.
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Rowan DJ, Tomatsu S, Grubb JH, Haupt B, Monta?o AM, Oikawa H, Sosa AC, Chen A, Sly WS. Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. Mol Genet Metab. 2012 Sep; 107(1-2):161-72.
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Tomatsu S, Monta?o AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009 Apr; 30(4):511-9.
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Monta?o AM, Oikawa H, Tomatsu S, Nishioka T, Vogler C, Gutierrez MA, Oguma T, Tan Y, Grubb JH, Dung VC, Ohashi A, Miyamoto K, Orii T, Yoneda Y, Sly WS. Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. Mol Genet Metab. 2008 Jun; 94(2):178-89.
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Sly WS, Vogler C, Grubb JH, Levy B, Galvin N, Tan Y, Nishioka T, Tomatsu S. Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors. Proc Natl Acad Sci U S A. 2006 Oct 10; 103(41):15172-7.
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Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez M, Dieter T, Holden CC, Sukegawa K, Orii T, Kondo N, Sly WS. Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Hum Mol Genet. 2003 May 01; 12(9):961-73.
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Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS. Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23):14982-7.
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Sly WS, Vogler C, Grubb JH, Zhou M, Jiang J, Zhou XY, Tomatsu S, Bi Y, Snella EM. Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice. Proc Natl Acad Sci U S A. 2001 Feb 27; 98(5):2205-10.
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Iwata S, Sukegawa K, Kokuryu M, Tomatsu S, Kondo N, Iwasa S, Orii T. Glycosaminoglycans in neonatal urine. Arch Dis Child Fetal Neonatal Ed. 2000 Jan; 82(1):F78.