메뉴 건너뛰기




Volumn 99, Issue 1, 2010, Pages 10-17

Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human α-l-iduronidase (laronidase)

Author keywords

Anthropometric features; Enzyme replacement therapy; Growth patterns; Growth retardation; Hurler syndrome; Hurler Scheie syndrome; Mucopolysaccharidosis type I; Scheie syndrome

Indexed keywords

LARONIDASE;

EID: 71649093573     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.08.008     Document Type: Article
Times cited : (32)

References (26)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds), McGraw-Hill, New York
    • Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 3421-3452
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 3421-3452
    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 59449083175 scopus 로고    scopus 로고
    • Long term efficacy and safety of laronidase in the treatment of mucopolysaccharidoses I
    • Clarke L.A., Wraith J.E., Beck M., et al. Long term efficacy and safety of laronidase in the treatment of mucopolysaccharidoses I. Pediatrics 123 (2009) 229-240
    • (2009) Pediatrics , vol.123 , pp. 229-240
    • Clarke, L.A.1    Wraith, J.E.2    Beck, M.3
  • 3
    • 0021998174 scopus 로고
    • The clinical spectrum of a-l-iduronidase deficiency
    • Roubicek M., Gehler J., and Spranger J. The clinical spectrum of a-l-iduronidase deficiency. Am. J. Med. Genet. 20 (1985) 471-481
    • (1985) Am. J. Med. Genet. , vol.20 , pp. 471-481
    • Roubicek, M.1    Gehler, J.2    Spranger, J.3
  • 4
    • 0033888320 scopus 로고    scopus 로고
    • Impaired elastogenesis in Hurler disease. Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly
    • Hinek A., and Wilson S.E. Impaired elastogenesis in Hurler disease. Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am. J. Pathol. 156 (2000) 925-938
    • (2000) Am. J. Pathol. , vol.156 , pp. 925-938
    • Hinek, A.1    Wilson, S.E.2
  • 5
    • 11344295301 scopus 로고    scopus 로고
    • Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
    • Pastores G.M., and Meere P.A. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr. Opin. Rheum. 17 (2005) 70-78
    • (2005) Curr. Opin. Rheum. , vol.17 , pp. 70-78
    • Pastores, G.M.1    Meere, P.A.2
  • 6
    • 38749093729 scopus 로고    scopus 로고
    • Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases
    • Simonaro C.M., D'Angelo M., He X., Eliyahu E., Shtraizent N., Haskins M.E., and Schuchman E.H. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 172 (2008) 112-122
    • (2008) Am. J. Pathol. , vol.172 , pp. 112-122
    • Simonaro, C.M.1    D'Angelo, M.2    He, X.3    Eliyahu, E.4    Shtraizent, N.5    Haskins, M.E.6    Schuchman, E.H.7
  • 8
    • 0017260721 scopus 로고
    • A review and selection of simple laboratory methods used for the study of glycosaminoglycans excretion and the diagnosis of mucopolysaccharidoses
    • Pennock C.A. A review and selection of simple laboratory methods used for the study of glycosaminoglycans excretion and the diagnosis of mucopolysaccharidoses. J. Chem. Pathol. 29 (1976) 111-123
    • (1976) J. Chem. Pathol. , vol.29 , pp. 111-123
    • Pennock, C.A.1
  • 9
    • 1942428001 scopus 로고
    • Dziecko poznanskie. Normy i metody kontroli rozwoju fizycznego
    • third ed, Poznan
    • A. Malinowski, Dziecko poznanskie. Normy i metody kontroli rozwoju fizycznego. Seria antropologia, third ed., Poznan, 1976.
    • (1976) Seria antropologia
    • Malinowski, A.1
  • 10
    • 71649095761 scopus 로고    scopus 로고
    • J. Cieslik, M. Kaczmarek, M.D. Kaliszewska-Drozdowska, Dziecko Poznanskie' 90. Wzrastanie, dojrzewanie, normy i metody rozwoju. (The Poznan Child'90. Growth, Development, Reference standards), Wydawnictwo Naukowe Bogucki, Poznan, 1994.
    • J. Cieslik, M. Kaczmarek, M.D. Kaliszewska-Drozdowska, Dziecko Poznanskie' 90. Wzrastanie, dojrzewanie, normy i metody rozwoju. (The Poznan Child'90. Growth, Development, Reference standards), Wydawnictwo Naukowe Bogucki, Poznan, 1994.
  • 12
    • 0041524060 scopus 로고    scopus 로고
    • Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
    • Terlato N.J., and Cox G.F. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 5 (2003) 286-294
    • (2003) Genet. Med. , vol.5 , pp. 286-294
    • Terlato, N.J.1    Cox, G.F.2
  • 15
    • 34447121276 scopus 로고    scopus 로고
    • Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-l-iduronidase (laronidase)
    • Wraith J.E., Beck M., Lane R., van der Ploeq A., Shapiro E., Xue Y., Kakkis E.D., and Guffon N. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-l-iduronidase (laronidase). Pediatrics 120 (2007) e37-e46
    • (2007) Pediatrics , vol.120
    • Wraith, J.E.1    Beck, M.2    Lane, R.3    van der Ploeq, A.4    Shapiro, E.5    Xue, Y.6    Kakkis, E.D.7    Guffon, N.8
  • 16
    • 35448948601 scopus 로고    scopus 로고
    • Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation
    • Arora R.S., Mercer J., Thornley M., Tylee K., and Wraith J.E. Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation. J. Inherit. Metab. Dis. 30 (2007) 821
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 821
    • Arora, R.S.1    Mercer, J.2    Thornley, M.3    Tylee, K.4    Wraith, J.E.5
  • 17
    • 34547906935 scopus 로고    scopus 로고
    • Outcome after three years of laronidase enzyme treatment therapy in a patient with Hurler syndrome
    • Thomas J.A., Jacobs S., Kierstein J., and Van Hove J. Outcome after three years of laronidase enzyme treatment therapy in a patient with Hurler syndrome. J. Inherit. Metab. Dis. 29 (2006) 762
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 762
    • Thomas, J.A.1    Jacobs, S.2    Kierstein, J.3    Van Hove, J.4
  • 18
    • 34249011209 scopus 로고    scopus 로고
    • Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I
    • Tokic V., Barisic I., Huzjak N., Petkovic G., Fumic K., and Paschke E. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur. J. Pediatr. 166 (2007) 727-732
    • (2007) Eur. J. Pediatr. , vol.166 , pp. 727-732
    • Tokic, V.1    Barisic, I.2    Huzjak, N.3    Petkovic, G.4    Fumic, K.5    Paschke, E.6
  • 19
    • 33846407580 scopus 로고    scopus 로고
    • Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy
    • Cox-Brinkman J., Smeulders M.J., Hollak C.E., and Wijburg F.A. Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy. J. Inherit. Metab. Dis. 30 (2007) 47-50
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 47-50
    • Cox-Brinkman, J.1    Smeulders, M.J.2    Hollak, C.E.3    Wijburg, F.A.4
  • 20
    • 59449100963 scopus 로고    scopus 로고
    • Mucopolysaccharidosis I: management and treatment guidelines
    • Muenzer J., Wraith J.E., and Clarke L.A. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123 (2009) 19-29
    • (2009) Pediatrics , vol.123 , pp. 19-29
    • Muenzer, J.1    Wraith, J.E.2    Clarke, L.A.3
  • 23
    • 17744378748 scopus 로고    scopus 로고
    • Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models
    • Simonaro C.M., D'Angelo M., Haskins M.E., and Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 57 (2005) 701-707
    • (2005) Pediatr. Res. , vol.57 , pp. 701-707
    • Simonaro, C.M.1    D'Angelo, M.2    Haskins, M.E.3    Schuchman, E.H.4
  • 24
    • 0027285264 scopus 로고
    • Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy
    • Norrdin R.W., Moffat K.S., Thrall M.A., and Grasper P.W. Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy. Bone 14 (1993) 361-367
    • (1993) Bone , vol.14 , pp. 361-367
    • Norrdin, R.W.1    Moffat, K.S.2    Thrall, M.A.3    Grasper, P.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.