메뉴 건너뛰기




Volumn 11, Issue , 2013, Pages 125-132

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: Diagnostic considerations for mucopolysaccharidoses

Author keywords

Dermatan sulfate; Enzyme replacement therapy; Multiple sulfatase deficiency; Spondyloepiphyseal dysplasia; Stickler syndrome

Indexed keywords


EID: 84893797099     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_231     Document Type: Chapter
Times cited : (20)

References (36)
  • 1
    • 9244235284 scopus 로고
    • Ueber konstitutionell bedingte Granulationsveraender-ungen der Leukocyten
    • Alder A (1939) Ueber konstitutionell bedingte Granulationsveraender-ungen der Leukocyten. Dtsch Arch Klin Med 183:372–378
    • (1939) Dtsch Arch Klin Med , vol.183 , pp. 372-378
    • Alder, A.1
  • 2
    • 0024224526 scopus 로고
    • Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease
    • Andersen PE Jr, Schantz K, Bollerslev J, Justesen P (1988) Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease. Acta Radiol 29(6):705–709
    • (1988) Acta Radiol , vol.29 , Issue.6 , pp. 705-709
    • Andersen, P.E.1    Schantz, K.2    Bollerslev, J.3    Justesen, P.4
  • 3
    • 49749198315 scopus 로고
    • The assay of arylsulphatases A and B in human urine
    • Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulphatases A and B in human urine. Clinica Chimica Acta 4:453–455
    • (1959) Clinica Chimica Acta , vol.4 , pp. 453-455
    • Baum, H.1    Dodgson, K.S.2    Spencer, B.3
  • 4
    • 16944363304 scopus 로고    scopus 로고
    • Identification of 31 novel mutations in the N-Acetylgalactosamine-6-Sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
    • Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S et al (1997) Identification of 31 novel mutations in the N-Acetylgalactosamine-6-Sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum Mutat 10(3):223–232
    • (1997) Hum Mutat , vol.10 , Issue.3 , pp. 223-232
    • Bunge, S.1    Kleijer, W.J.2    Tylki-Szymanska, A.3    Steglich, C.4    Beck, M.5    Tomatsu, S.6
  • 5
    • 0020619582 scopus 로고
    • Bilateral failure of the capital femoral epiphysis: Bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda
    • Crossan JF, Wynne-Davies R, Fulford GE (1983) Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. J Pediatr Orthop 3:297–301
    • (1983) J Pediatr Orthop , vol.3 , pp. 297-301
    • Crossan, J.F.1    Wynne-Davies, R.2    Fulford, G.E.3
  • 6
    • 0024361474 scopus 로고
    • Dimethyl-methylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: A rapid screening procedure for mucopolysaccharidoses
    • de Jong JG, Wevers RA, Laarakkers C et al (1989) Dimethyl-methylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35:1472–1477
    • (1989) Clin Chem , vol.35 , pp. 1472-1477
    • de Jong, J.G.1    Wevers, R.A.2    Laarakkers, C.3
  • 10
    • 79958060145 scopus 로고    scopus 로고
    • Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the pY210C mutation in the ARSB gene
    • Gottwald I, Hughes J, Stewart F, Tylee K, Church H, Jones SA (2011) Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the pY210C mutation in the ARSB gene. Mol Genet Metab 103(3):300–302
    • (2011) Mol Genet Metab , vol.103 , Issue.3 , pp. 300-302
    • Gottwald, I.1    Hughes, J.2    Stewart, F.3    Tylee, K.4    Church, H.5    Jones, S.A.6
  • 11
    • 34548017456 scopus 로고    scopus 로고
    • Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: An evaluation
    • Gray G, Claridge P, Jenkinson L et al (2007) Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation. Ann Clin Biochem 44:360–363
    • (2007) Ann Clin Biochem , vol.44 , pp. 360-363
    • Gray, G.1    Claridge, P.2    Jenkinson, L.3
  • 13
    • 0021276723 scopus 로고
    • Mild manifestations of the Morquio syndrome
    • Jun
    • Hecht JT, Scott CL Jr, Smith TK et al (Jun 1984) Mild manifestations of the Morquio syndrome. Am J Med Genet 18(2):369–371
    • (1984) Am J Med Genet , vol.18 , Issue.2 , pp. 369-371
    • Hecht, J.T.1    Scott, C.L.2    Smith, T.K.3
  • 14
    • 0020070722 scopus 로고
    • High-resolution electrophoresis of urinary glycosaminoglycans: An improved screening test for the mucopolysaccharidoses
    • Hopwood JJ, Harrison JR (1982) High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 119:120–127
    • (1982) Anal Biochem , vol.119 , pp. 120-127
    • Hopwood, J.J.1    Harrison, J.R.2
  • 15
    • 34547673433 scopus 로고    scopus 로고
    • Mutational analysis of 105 mucopolysaccharidosis type VI patients
    • Karageoros L, Brooks D, Pollard A et al (2007) Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat 28 (9):897–903
    • (2007) Hum Mutat , vol.28 , Issue.9 , pp. 897-903
    • Karageoros, L.1    Brooks, D.2    Pollard, A.3
  • 16
    • 0031456443 scopus 로고    scopus 로고
    • A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA
    • Kato Z, Fukuda S, Tomatsu S et al (1997) A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. Hum Genet 101(1):97–101
    • (1997) Hum Genet , vol.101 , Issue.1 , pp. 97-101
    • Kato, Z.1    Fukuda, S.2    Tomatsu, S.3
  • 17
    • 80052245814 scopus 로고    scopus 로고
    • Legg-Calvé Perthes disease: Etiology, pathogenesis, and biology
    • Kim HK (2011) Legg-Calvé Perthes disease: etiology, pathogenesis, and biology. J Pediatr Orthop 31(Supp 2):S141–S146
    • (2011) J Pediatr Orthop , vol.31 , pp. S141-S146
    • Kim, H.K.1
  • 18
    • 84865695796 scopus 로고    scopus 로고
    • The live-birth prevalence of mucopolysaccharidoses in Estonia
    • Epub ahead of print
    • Krabbi K, Joost K, Zordania R et al (2012) The live-birth prevalence of mucopolysaccharidoses in Estonia. Genet Test Mol Bio-markers 16(8):846–849 (Epub ahead of print)
    • (2012) Genet Test Mol Bio-Markers , vol.16 , Issue.8 , pp. 846-849
    • Krabbi, K.1    Joost, K.2    Zordania, R.3
  • 19
    • 0029885020 scopus 로고    scopus 로고
    • Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
    • Litjens T, Brooks DA, Peters C, Gibson GJ, Hopwood JJ (1996) Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 58:1127–1134
    • (1996) Am J Hum Genet , vol.58 , pp. 1127-1134
    • Litjens, T.1    Brooks, D.A.2    Peters, C.3    Gibson, G.J.4    Hopwood, J.J.5
  • 20
    • 0001509153 scopus 로고
    • A new dysostosis with urinary elimination of chondroitin sulfate B
    • Maroteaux P, Leveque B, Marie J, Lamy M (1963) A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med 71:1849–1852
    • (1963) Presse Med , vol.71 , pp. 1849-1852
    • Maroteaux, P.1    Leveque, B.2    Marie, J.3    Lamy, M.4
  • 23
    • 33947615114 scopus 로고    scopus 로고
    • International Morquio a registry: Clinical manifestations and natural course of Morquio A disease
    • Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T (2007) International Morquio a registry: clinical manifestations and natural course of Morquio A disease. J Inherit Metab Dis 30:165–174
    • (2007) J Inherit Metab Dis , vol.30 , pp. 165-174
    • Montano, A.M.1    Tomatsu, S.2    Gottesman, G.S.3    Smith, M.4    Orii, T.5
  • 24
    • 0000659216 scopus 로고
    • Sur une forme de dystrophie osseuse familial
    • Morquio L (1929) Sur une forme de dystrophie osseuse familial. Arch de médecine des infants 32:129–135
    • (1929) Arch De médecine Des Infants , vol.32 , pp. 129-135
    • Morquio, L.1
  • 25
    • 0020384530 scopus 로고
    • Maroteaux Lamy syndrome, mild form – MPS VI B
    • Paterson DE, Harper G, Weston HJ et al (1982) Maroteaux Lamy syndrome, mild form – MPS VI B. Br J Radiol 55:805–812
    • (1982) Br J Radiol , vol.55 , pp. 805-812
    • Paterson, D.E.1    Harper, G.2    Weston, H.J.3
  • 27
    • 0031930658 scopus 로고    scopus 로고
    • Urine analysis in the diagnosis of mucopolysaccharide disorders
    • Stone J (1998) Urine analysis in the diagnosis of mucopolysaccharide disorders. Ann Clin Biochem 35(Pt 2):207–225
    • (1998) Ann Clin Biochem , vol.35 , pp. 207-225
    • Stone, J.1
  • 28
    • 20144386995 scopus 로고    scopus 로고
    • Threshold effects of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    • Swiedler SJ, Beck M, Bajbouj M et al (2005) Threshold effects of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet 134A:144–150
    • (2005) Am J Med Genet , vol.134A , pp. 144-150
    • Swiedler, S.J.1    Beck, M.2    Bajbouj, M.3
  • 29
    • 28844443166 scopus 로고    scopus 로고
    • Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
    • Tomatsu S, Montano AM, Nishioka T et al (2005) Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 26:500–512
    • (2005) Hum Mutat , vol.26 , pp. 500-512
    • Tomatsu, S.1    Montano, A.M.2    Nishioka, T.3
  • 30
    • 0025858408 scopus 로고
    • Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux Lamy phenotype
    • Tønnesen T, Gregersen HN, Guttler F (1991) Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux Lamy phenotype. J Med Genet 28:499–501
    • (1991) J Med Genet , vol.28 , pp. 499-501
    • Tønnesen, T.1    Gregersen, H.N.2    Guttler, F.3
  • 31
    • 2642676878 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular findings in a two-generation Morquio A family
    • Tylki-Szymanska A, Czartoryska B, Bunge S et al (1998) Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet 53(5):369–374
    • (1998) Clin Genet , vol.53 , Issue.5 , pp. 369-374
    • Tylki-Szymanska, A.1    Czartoryska, B.2    Bunge, S.3
  • 33
    • 0025135526 scopus 로고
    • A fluorimetric enzyme assay for the diagnosis of Morquio disease type A
    • van Diggelen OP, Zhao H, Kleijer WJ et al (1990) A fluorimetric enzyme assay for the diagnosis of Morquio disease type A. Clin Chem Acta 187:131–140
    • (1990) Clin Chem Acta , vol.187 , pp. 131-140
    • van Diggelen, O.P.1    Zhao, H.2    Kleijer, W.J.3
  • 34
    • 84860194402 scopus 로고    scopus 로고
    • Expert recommendations for the laboratory diagnosis of MPS VI
    • Wood T, Bodamer OA, Burin MG et al (2012) Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab 106(1):73–82
    • (2012) Mol Genet Metab , vol.106 , Issue.1 , pp. 73-82
    • Wood, T.1    Bodamer, O.A.2    Burin, M.G.3
  • 35
    • 85060280225 scopus 로고    scopus 로고
    • Analysis of glycosaminoglycans in CSF and urine using tandem mass spectrometry: Potential for therapeutic monitoring of patients with mucopolysaccharidoses
    • Zhang H (2012) Analysis of glycosaminoglycans in CSF and urine using tandem mass spectrometry: Potential for therapeutic monitoring of patients with mucopolysaccharidoses. Jrnl Amer Soc Mass Spec 22(1):66
    • (2012) Jrnl Amer Soc Mass Spec , vol.22 , Issue.1 , pp. 66
    • Zhang, H.1
  • 36
    • 79959700144 scopus 로고    scopus 로고
    • Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquids chromatography-tandem mass spectrometry
    • Zhang H, Young SP, Auray-Blais C, Orchard PJ, Tolar J, Millington DS (2011) Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquids chromatography-tandem mass spectrometry. Clin Chem 57(7):1005–1012
    • (2011) Clin Chem , vol.57 , Issue.7 , pp. 1005-1012
    • Zhang, H.1    Young, S.P.2    Auray-Blais, C.3    Orchard, P.J.4    Tolar, J.5    Millington, D.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.