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Volumn 97, Issue 11, 2008, Pages 1577-1581

Mucopolysaccharidoses in the Scandinavian countries: Incidence and prevalence

Author keywords

Incidence; Mucopolysaccharidoses; Prevalence; Scandinavia

Indexed keywords

ARTICLE; CHILD; COST BENEFIT ANALYSIS; DENMARK; FEMALE; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MAROTEAUX LAMY SYNDROME; MORQUIO SYNDROME; NORWAY; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SANFILIPPO SYNDROME; SCANDINAVIA; SWEDEN;

EID: 53749104461     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00965.x     Document Type: Article
Times cited : (98)

References (22)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The Mucopolysaccharidoses
    • In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., editors. New York: McGraw-Hill
    • Neufeld EF, Joseph M. The Mucopolysaccharidoses. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic & molecular bases of inherited disease. 8th ed. New York : McGraw-Hill, 2001 : 3421 52.
    • (2001) The Metabolic & Molecular Bases of Inherited Disease. 8th Ed. , pp. 3421-52
    • Neufeld, E.F.1    Joseph, M.2
  • 2
    • 33747160480 scopus 로고    scopus 로고
    • Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
    • Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr 2006 27 : 290 6.
    • (2006) J Dev Behav Pediatr , vol.27 , pp. 290-6
    • Bjoraker, K.J.1    Delaney, K.2    Peters, C.3    Krivit, W.4    Shapiro, E.G.5
  • 3
    • 34547147899 scopus 로고    scopus 로고
    • Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: A risk factor analysis for graft failure
    • Boelens JJ, Wynn RF, O'Meara A, Veys P, Bertrand Y, Souillet G, et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant 2007 40 : 225 33.
    • (2007) Bone Marrow Transplant , vol.40 , pp. 225-33
    • Boelens, J.J.1    Wynn, R.F.2    O'Meara, A.3    Veys, P.4    Bertrand, Y.5    Souillet, G.6
  • 4
    • 0036362937 scopus 로고    scopus 로고
    • Stem cell bone marrow transplantation in patients with metabolic storage diseases
    • Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr 2002 49 : 359 78.
    • (2002) Adv Pediatr , vol.49 , pp. 359-78
    • Krivit, W.1
  • 5
    • 9344245169 scopus 로고    scopus 로고
    • Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
    • Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996 87 : 4894 902.
    • (1996) Blood , vol.87 , pp. 4894-902
    • Peters, C.1    Balthazor, M.2    Shapiro, E.G.3    King, R.J.4    Kollman, C.5    Hegland, J.D.6
  • 6
    • 2342535103 scopus 로고    scopus 로고
    • Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
    • Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004 350 : 1960 9.
    • (2004) N Engl J Med , vol.350 , pp. 1960-9
    • Staba, S.L.1    Escolar, M.L.2    Poe, M.3    Kim, Y.4    Martin, P.L.5    Szabolcs, P.6
  • 7
    • 0029073339 scopus 로고
    • Similar incidence of graft-versus-host disease using HLA-A, -B and -DR identical unrelated bone marrow donors as with HLA-identical siblings
    • Ringden O, Remberger M, Persson U, Ljungman P, Aldener A, Andstrom E, et al. Similar incidence of graft-versus-host disease using HLA-A, -B and -DR identical unrelated bone marrow donors as with HLA-identical siblings. Bone Marrow Transplant 1995 15 : 619 25.
    • (1995) Bone Marrow Transplant , vol.15 , pp. 619-25
    • Ringden, O.1    Remberger, M.2    Persson, U.3    Ljungman, P.4    Aldener, A.5    Andstrom, E.6
  • 8
    • 33645046392 scopus 로고    scopus 로고
    • Allogeneic hematopoietic stem cell transplantation for inherited disorders: Experience in a single center
    • Ringden O, Remberger M, Svahn BM, Barkholt L, Mattsson J, Aschan J, et al. Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center. Transplantation 2006 81 : 718 25.
    • (2006) Transplantation , vol.81 , pp. 718-25
    • Ringden, O.1    Remberger, M.2    Svahn, B.M.3    Barkholt, L.4    Mattsson, J.5    Aschan, J.6
  • 9
    • 20944443759 scopus 로고    scopus 로고
    • Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
    • Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med 2005 7 : 143 6.
    • (2005) Genet Med , vol.7 , pp. 143-6
    • Grewal, S.S.1    Wynn, R.2    Abdenur, J.E.3    Burton, B.K.4    Gharib, M.5    Haase, C.6
  • 10
    • 0030221033 scopus 로고    scopus 로고
    • Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I
    • Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996 58 : 156 67.
    • (1996) Biochem Mol Med , vol.58 , pp. 156-67
    • Kakkis, E.D.1    McEntee, M.F.2    Schmidtchen, A.3    Neufeld, E.F.4    Ward, D.A.5    Gompf, R.E.6
  • 12
    • 2342666229 scopus 로고    scopus 로고
    • Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase)
    • Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase). J Pediatr 2004 144 : 581 8.
    • (2004) J Pediatr , vol.144 , pp. 581-8
    • Wraith, J.E.1    Clarke, L.A.2    Beck, M.3    Kolodny, E.H.4    Pastores, G.M.5    Muenzer, J.6
  • 13
    • 33846198829 scopus 로고    scopus 로고
    • A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
    • Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007 90 : 171 80.
    • (2007) Mol Genet Metab , vol.90 , pp. 171-80
    • Sifuentes, M.1    Doroshow, R.2    Hoft, R.3    Mason, G.4    Walot, I.5    Diament, M.6
  • 14
    • 33747209013 scopus 로고    scopus 로고
    • A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
    • Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006 8 : 465 73.
    • (2006) Genet Med , vol.8 , pp. 465-73
    • Muenzer, J.1    Wraith, J.E.2    Beck, M.3    Giugliani, R.4    Harmatz, P.5    Eng, C.M.6
  • 15
    • 39149118050 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
    • Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatrics 2008 167 : 267 77.
    • (2008) Eur J Pediatrics , vol.167 , pp. 267-77
    • Wraith, J.E.1    Scarpa, M.2    Beck, M.3    Bodamer, O.A.4    De Meirleir, L.5    Guffon, N.6
  • 16
    • 27744493202 scopus 로고    scopus 로고
    • Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase
    • Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005 115 : 681 9.
    • (2005) Pediatrics , vol.115 , pp. 681-9
    • Harmatz, P.1    Ketteridge, D.2    Giugliani, R.3    Guffon, N.4    Teles, E.L.5    Miranda, M.C.6
  • 17
    • 0035182013 scopus 로고    scopus 로고
    • Mutational analysis of 85 mucopolysaccharidosis type I families: Frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    • Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 2001 109 : 503 11.
    • (2001) Hum Genet , vol.109 , pp. 503-11
    • Beesley, C.E.1    Meaney, C.A.2    Greenland, G.3    Adams, V.4    Vellodi, A.5    Young, E.P.6
  • 18
    • 0015582477 scopus 로고
    • The quantitative measurement of Alcian blue-glycosaminoglycan complexes
    • Whiteman P. The quantitative measurement of Alcian blue-glycosaminoglycan complexes. Biochem J 1973 131 : 343 50.
    • (1973) Biochem J , vol.131 , pp. 343-50
    • Whiteman, P.1
  • 19
    • 0018405128 scopus 로고
    • A fluorometric assay using 4-methylumbelliferyl alpha-l-iduronide for the estimation of alpha-l-iduronidase activity and the detection of Hurler and Scheie syndromes
    • Hopwood JJ, Muller V, Smithson A, Baggett N. A fluorometric assay using 4-methylumbelliferyl alpha-l-iduronide for the estimation of alpha-l-iduronidase activity and the detection of Hurler and Scheie syndromes. Clin Chim Acta 1979 92 : 257 65.
    • (1979) Clin Chim Acta , vol.92 , pp. 257-65
    • Hopwood, J.J.1    Muller, V.2    Smithson, A.3    Baggett, N.4
  • 20
    • 0037129038 scopus 로고    scopus 로고
    • Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis
    • Malm G, Bondeson ML, von Dobeln U, Mansson JE. Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis. Lakartidningen 2002 99 : 1804 9.
    • (2002) Lakartidningen , vol.99 , pp. 1804-9
    • Malm, G.1    Bondeson, M.L.2    Von Dobeln, U.3    Mansson, J.E.4
  • 22
    • 0031899732 scopus 로고    scopus 로고
    • Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
    • Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W. Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. Hum Genet 1998 102 : 69 78.
    • (1998) Hum Genet , vol.102 , pp. 69-78
    • Vervoort, R.1    Gitzelmann, R.2    Bosshard, N.3    Maire, I.4    Liebaers, I.5    Lissens, W.6


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