Mucopolysaccharidosis type

Hein LK, Meikle PJ, Dean CJ, Bockmann MR, Auclair D, Hopwood JJ, Brooks DA (2005) Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood spots. Clin Chim Acta 353 67-74... 

Northover H, Cowie RA, Wraith JE (1996) Mucopolysaccharidosis type IVA (Morquio syndrome) a clinical review. J Inherit Metab Dis 19 357-365... 

Tuschl K, Gal A, Paschke E, Kircher S, Bodamer (2004) Mucopolysaccharidosis type ii in females case report and review of literature. Pediatr Neurol 32 270-272... 

Figure 4.2.2 depicts the urinary oligosaccharide patterns of sialidosis (a-neur-aminidase deficiency), GM1 gangliosidosis and mucopolysaccharidosis type IVB (/3-galaclosidase deficiency) compared to a normal urine and standards of raffinose, lactose and glucose. In patients with sialidosis, a densely staining band close to the... 

Birkenmeier, E. H. et al. (1989). Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J. Clin. Invest. 83(4), 1258-1266. 

Bosch, A. et al. (2000). Long-term and significant correction of brain lesions in adult mucopolysaccharidosis type VII mice using recombinant AAV vectors. Mol. Ther. 1(1), 63-70. 

Daly, T. M. et al. (1999b). Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice. Hum. Gene Ther. 10(1), 85-94. 

Levy, B. et al. (1996). Neuropathology of murine mucopolysaccharidosis type VII. Acta Neuropathol. (Berk) 92(6), 562-568. 

Sands, M. S. and Birkenmeier, E. FI. (1993). A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII. Proc. Natl. Acad. Sci. USA 90(14), 6567-6571. 

Sferra, T. J. et al. (2000). Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse. Hum. Gene Ther. 11(4), 507-519. 

Vogler, C. et al. (1998). Murine mucopolysaccharidosis type VII The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. J. Inherit. Metab. Dis. 21(5), 575-586. 

Meertens, L., Zhao, Y., Rosic-Kablar, S., Li, L., Chan, K., Dobson, H., Gartley, C., Lutzko, C., Hopwood, J., Kohn, D., Kruth, S., Hough, M. R. and Dube, I. D. (2002). In utero injection of alpha-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I Infection of multiple tissues and neonatal gene expression. Hum. Gene Ther. 13, 1809-1820. 

Muenzer, J., Lamsa, J. C., Garcia, A., Dacosta, J., Garcia, J. and Treco, D. A. (2002). Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome) A preliminary report. Acta Paediatr. Suppl. 91, 98-99. 

Tomanin, R., Friso, A., Alba, S., Piller, P. E., Mennuni, C., La Monica, N., Hortelano, G., Zacchello, F. and Scarpa, M. (2002). Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome). Acta Paediatr. 91 (Suppl.), 100-104. 

LeBowitz JH, Grubb JH, Maga JA, et al. Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. Proc Natl AcadSci U.S.A. 101 3083-3088,2004. 

Wolfe JH, Schuchman EH, Stramm LE, et al. Restoration of normal lysosomal function in mucopolysaccharidosis type VII by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U.S.A. 87 2877-2881,1990. 

Several endeavors are being directed towards identifying biomarkers that can serve as a surrogate indicator of disease severity, in terms of either overall disease burden or involvement of a particular organ/system in patients with an LSD. In mucopolysaccharidosis type I, the analysis of the levels of oligosaccharides derived from GAGs in cultured fibroblasts (as measured by electrospray ionization tandem mass spectrometry) combined with the residual a-L-iduronidase activity have been shown to distinguish patients with and without CNS involvement (Fuller et al.,... 

Crawley AC, Gliddon BL, Auclair D, Brodie SL, Hirte C, King BM, Fuller M, Hemsley KM, Hopwood JJ. Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA. Brain Res. 2006 1104 1-17. 

Sairds MS, Vogler C, Kyle JW, Grubb IH, Levy B, Galvin N, Sly WS, Birkeirmeier EH (1994) Eirzyme replacemeirt tlrerapy for muiiire mucopolysaccharidosis type VII. J CHii Invest 93 2324—2331. 

Vogler C, Levy B, Galvin NJ, Thorpe C, Sands MS, Barker JE, Baty J, Birkenmeier EH, Sly WS (1999) Enzyme replacement in murine mucopolysaccharidosis type VII Neuronal and glial resporrse to beta-glucuronidase requires early initiation of errzyme replacement therapy. Pediatr Res 45 838-844. 

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