共 16 条
[1]
Baehner F., Schmiedeskamp C., Krummenauer F., Miebach E., Bajbouj M., Whybra C., Et al., Cumulative incidence rates of the mucopolysaccharidoses in Germany, J Inherit Metab Dis, 28, pp. 1011-1017, (2005)
[2]
Costa-Motta F.M., Bender F., Acosta A., Abe-Sandes K., Machado T., Bomfim T., Boa Sorte T., da Silva D., Bittles A., Giugliani R., Leistner-Segal S., A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity, Hum Hered, 77, 1-4, pp. 189-196, (2014)
[3]
Giugliani R., Harmatz P., Wraith J.E., Management guidelines for mucopolysaccharidosis VI, Pediatrics, 120, 2, pp. 405-418, (2007)
[4]
Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Et al., Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study, J Pediatr, 148, pp. 533-539, (2006)
[5]
Harmatz P., Giugliani R., Schwartz I.V., Guffon N., Teles E.L., Miranda M.C., Et al., Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human Nacetylgalactosamine 4-sulfatase, Mol Genet Metab, 94, pp. 469-475, (2008)
[6]
el-Hazmi M.A., al-Swailem A.R., Warsy A.S., al-Swailem A.M., Sulaimani R., al-Meshari A.A., Consanguinity among the Saudi Arabian population, J Med Genet, 32, 8, pp. 623-626, (1995)
[7]
Herskhovitz E., Young E., Rainer J., Hall C.M., Lidchi V., Chong K., Vellodi A., Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up, J Inherit Metab Dis, 22, 1, pp. 50-62, (1999)
[8]
Jurecka A., Zakharova E., Cimbalistiene L., Gusina N., Kulpanovich A., Golda A., Opoka-Winiarska V., Piotrowska E., Voskoboeva E., Tylki-Szymanska A., Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene, Am J Med Genet A, 161A, 6, pp. 1291-1299, (2013)
[9]
Karageorgos L., Brooks D.A., Pollard A., Melville E.L., Hein L.K., Clements P.R., Ketteridge D., Swiedler S.J., Beck M., Giugliani R., Harmatz P., Wraith J.E., Guffon N., Leao Teles E., Sa Miranda M.C., Hopwood J.J., Mutational analysis of 105 mucopolysaccharidosis type VI patients, Hum Mutat, 28, 9, pp. 897-903, (2007)
[10]
Malm G., Lund A.M., Mansson J.E., Heiberg A., Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence, Acta Paediatr, 97, pp. 1577-1581, (2008)