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Volumn 25, Issue 4, 2011, Pages 251-254

Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis

Author keywords

iduronidase; Dried blood spots; Enzyme activity; Fluorimetric assay; Lysosomal storage disease; Mucopolysaccharidosis type I

Indexed keywords

LEVO IDURONIDASE;

EID: 79960679666     PISSN: 08878013     EISSN: 10982825     Source Type: Journal    
DOI: 10.1002/jcla.20468     Document Type: Article
Times cited : (6)

References (14)
  • 1
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidosis
    • In: Scriver CBA, Sly W, Valle D, Childs R, Kinzler KW, editors. New York, NY: McGraw Hill.
    • Neufeld EF. Muenzer J. 2001. The mucopolysaccharidosis. In: Scriver CBA, Sly W, Valle D, Childs R, Kinzler KW, editors. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease
    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 0015804158 scopus 로고
    • Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells
    • Hall CW, Neufeld EF. Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys 1973;158:817-821.
    • (1973) Arch Biochem Biophys , vol.158 , pp. 817-821
    • Hall, C.W.1    Neufeld, E.F.2
  • 3
    • 0016612235 scopus 로고
    • The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes
    • Liem KO, Hooghwinkel GJ. The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes. Clin Chim Acta 1975;60:259-262.
    • (1975) Clin Chim Acta , vol.60 , pp. 259-262
    • Liem, K.O.1    Hooghwinkel, G.J.2
  • 4
    • 0017195403 scopus 로고
    • alpha-L-iduronidase activity in leukocytes: Diagnosis of homozygotes and heterozygotes of the Hurler syndrome
    • Omura K, Higami S, Tada K. alpha-L-iduronidase activity in leukocytes: Diagnosis of homozygotes and heterozygotes of the Hurler syndrome. Eur J Pediatr 1976;122:103-105.
    • (1976) Eur J Pediatr , vol.122 , pp. 103-105
    • Omura, K.1    Higami, S.2    Tada, K.3
  • 5
    • 0011214585 scopus 로고
    • Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts
    • Rome LH, Weissmann B, Neufeld EF. Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. Proc Natl Acad Sci USA 1979;76:2331-2334.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 2331-2334
    • Rome, L.H.1    Weissmann, B.2    Neufeld, E.F.3
  • 6
    • 0035064872 scopus 로고    scopus 로고
    • Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis
    • Chamoles NA, Blanco M, Gaggioli D. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem 2001;47:780-781.
    • (2001) Clin Chem , vol.47 , pp. 780-781
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 7
    • 0035202118 scopus 로고    scopus 로고
    • Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001;47:2098-2102.
    • (2001) Clin Chem , vol.47 , pp. 2098-2102
    • Chamoles, N.A.1    Blanco, M.B.2    Gaggioli, D.3    Casentini, C.4
  • 9
    • 60649094505 scopus 로고    scopus 로고
    • Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and beta-galactosidase assays on dried blood spots
    • Gasparotto N, Tomanin R, Frigo AC, et al. Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and beta-galactosidase assays on dried blood spots. Clin Chim Acta 2009;402:38-41.
    • (2009) Clin Chim Acta , vol.402 , pp. 38-41
    • Gasparotto, N.1    Tomanin, R.2    Frigo, A.C.3
  • 10
    • 77049309786 scopus 로고
    • Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes
    • Skoog WA, Beck WS. Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 1956;11:436-454.
    • (1956) Blood , vol.11 , pp. 436-454
    • Skoog, W.A.1    Beck, W.S.2
  • 11
    • 85045083229 scopus 로고    scopus 로고
    • Reference values for lysosomal enzymes activities using dried blood spots samples-A Brazilian experience
    • Muller KB, Rodrigues MD, Pereira VG, Martins AM, D'Almeida V. Reference values for lysosomal enzymes activities using dried blood spots samples-A Brazilian experience. Diagn Pathol 2010;5:65.
    • (2010) Diagn Pathol , vol.5 , pp. 65
    • Muller, K.B.1    Rodrigues, M.D.2    Pereira, V.G.3    Martins, A.M.4    D'Almeida, V.5
  • 12
    • 17744388985 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    • Wang D, Eadala B, Sadilek M, et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900.
    • (2005) Clin Chem , vol.51 , pp. 898-900
    • Wang, D.1    Eadala, B.2    Sadilek, M.3
  • 13
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-196.
    • (2001) Clin Chim Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 14
    • 0036155174 scopus 로고    scopus 로고
    • Gaucher and Niemann-Pick diseases-Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases-Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;317:191-197.
    • (2002) Clin Chim Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.