메뉴 건너뛰기




Volumn 65, Issue 1, 2007, Pages 5-11

Mucopolysaccharidosis IVA (Morquio A syndrome): Clinical, biological and therapeutic aspects;La mucopolysaccharidose IVA (syndrome de Morquio A): Aspects clinique, biologique et thérapeutique

Author keywords

Keratan sulfate; Mucopolysaccharidosis IVA; N acetylgalactosamine 6 sulfate sufatase; Systemic bone dysplasia

Indexed keywords

IVA;

EID: 34147179437     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: 10.1684/abc.2007.0020     Document Type: Review
Times cited : (12)

References (29)
  • 1
    • 37748998983 scopus 로고    scopus 로고
    • Neufeld EF, Muenzer J. The mucoploysaccharidosis. In : Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B, eds. The metabolic and molecular bases of inherited diseases. New York : McCraw-Hill, 1995 : 3421-52.
    • Neufeld EF, Muenzer J. The mucoploysaccharidosis. In : Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B, eds. The metabolic and molecular bases of inherited diseases. New York : McCraw-Hill, 1995 : 3421-52.
  • 2
    • 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. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat 2005 ; 26 : 500-12.
    • (2005) Hum Mutat , vol.26 , pp. 500-512
    • Tomatsu, S.1    Montano, A.M.2    Nishioka, T.3
  • 3
    • 0037495925 scopus 로고    scopus 로고
    • A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis
    • Ebara S, Kinoshita T, Yuzawa Y, et al. A case of mucopolysaccharidosis IV with lower leg paresis due to thoraco-lumbar kyphoscoliosis. J Clin Neurosci 2003 ; 10 : 358-61.
    • (2003) J Clin Neurosci , vol.10 , pp. 358-361
    • Ebara, S.1    Kinoshita, T.2    Yuzawa, Y.3
  • 5
    • 12144286060 scopus 로고    scopus 로고
    • Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
    • Tomatsu S, Okamura K, Taketani T, et al. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res 2004 ; 55 : 592-7.
    • (2004) Pediatr Res , vol.55 , pp. 592-597
    • Tomatsu, S.1    Okamura, K.2    Taketani, T.3
  • 6
    • 0029867496 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IVA : Four news exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency
    • Tomatsu S, Fukuda S, Yamagishi A, et al. Mucopolysaccharidosis IVA : four news exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. Am J Hum Genet 1996 ; 58 : 950-62.
    • (1996) Am J Hum Genet , vol.58 , pp. 950-962
    • Tomatsu, S.1    Fukuda, S.2    Yamagishi, A.3
  • 7
    • 0037559322 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IVA : Characterization of a commun mutation found in Finnish patients with attenuated phenotype
    • Montano AM, Kaitila I, Sukegawa K, et al. Mucopolysaccharidosis IVA : characterization of a commun mutation found in Finnish patients with attenuated phenotype. Hum Genet 2003 ; 113 : 162-9.
    • (2003) Hum Genet , vol.113 , pp. 162-169
    • Montano, A.M.1    Kaitila, I.2    Sukegawa, K.3
  • 8
    • 0032888030 scopus 로고    scopus 로고
    • Combined adenine phosphoribosyl-transferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
    • Wang L, Ou X, Sebesta I, et al. Combined adenine phosphoribosyl-transferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. Mol Genet Metab 1999 ; 68 : 78-85.
    • (1999) Mol Genet Metab , vol.68 , pp. 78-85
    • Wang, L.1    Ou, X.2    Sebesta, I.3
  • 9
    • 0026327213 scopus 로고
    • Morquio disease : Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
    • Tomatsu S, Fukuda S, Massue M, et al. Morquio disease : isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 1991 ; 181 : 677-82.
    • (1991) Biochem Biophys Res Commun , vol.181 , pp. 677-682
    • Tomatsu, S.1    Fukuda, S.2    Massue, M.3
  • 10
    • 0029065203 scopus 로고
    • Mucopolysaccharidosis type IVA : Common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)
    • Hori T, Tomatsu S, Nakashima Y, et al. Mucopolysaccharidosis type IVA : common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS). Genomics 1995 ; 26 : 535-42.
    • (1995) Genomics , vol.26 , pp. 535-542
    • Hori, T.1    Tomatsu, S.2    Nakashima, Y.3
  • 11
    • 4744360567 scopus 로고    scopus 로고
    • Identification of common mutation in mucopolysaccharidosis IVA : Correlation among genotype, phenotype, and keratan sulfate
    • Tomatsu S, Dieter T, Schwartz IV, et al. Identification of common mutation in mucopolysaccharidosis IVA : correlation among genotype, phenotype, and keratan sulfate. J Hum Genet 2004 ; 49 : 490-4.
    • (2004) J Hum Genet , vol.49 , pp. 490-494
    • Tomatsu, S.1    Dieter, T.2    Schwartz, I.V.3
  • 12
    • 33644647762 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type IV : N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients
    • Laradi S, Tukel T, Khedhiri S, et al. Mucopolysaccharidosis type IV : N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab 2006 ; 87 : 213-8.
    • (2006) Mol Genet Metab , vol.87 , pp. 213-218
    • Laradi, S.1    Tukel, T.2    Khedhiri, S.3
  • 13
    • 15844396990 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IV A (Morquio A) : Three novel small deletion in the N-acetylgalactosamine-6-sulfate sulfatase gene
    • Fukuda S, Tomatsu S, Cooper A, et al. Mucopolysaccharidosis IV A (Morquio A) : three novel small deletion in the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mutat 1996 ; 8 : 187-90.
    • (1996) Hum Mutat , vol.8 , pp. 187-190
    • Fukuda, S.1    Tomatsu, S.2    Cooper, A.3
  • 14
    • 0034701913 scopus 로고    scopus 로고
    • Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
    • Sukegawa K, Nakamura H, Kato Z, et al. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. Hum Mol Genet 2000 ; 9 : 1283-90.
    • (2000) Hum Mol Genet , vol.9 , pp. 1283-1290
    • Sukegawa, K.1    Nakamura, H.2    Kato, Z.3
  • 15
    • 0032417009 scopus 로고    scopus 로고
    • Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses : Characterization and basis of a diagnostic test for MPS
    • Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses : characterization and basis of a diagnostic test for MPS. Mol Genet Metab 1998; 65: 282-90.
    • (1998) Mol Genet Metab , vol.65 , pp. 282-290
    • Byers, S.1    Rozaklis, T.2    Brumfield, L.K.3    Ranieri, E.4    Hopwood, J.J.5
  • 16
    • 0034633090 scopus 로고    scopus 로고
    • Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses
    • Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martinez SE, et al. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch Med Res 2000 ; 31 : 505-10.
    • (2000) Arch Med Res , vol.31 , pp. 505-510
    • Gallegos-Arreola, M.P.1    Machorro-Lazo, M.V.2    Flores-Martinez, S.E.3
  • 17
    • 0022898517 scopus 로고
    • Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates
    • Panin G, Naia S, Dall'Amico R, et al. Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates. Clin Chem 1986 ; 32 : 2073-6.
    • (1986) Clin Chem , vol.32 , pp. 2073-2076
    • Panin, G.1    Naia, S.2    Dall'Amico, R.3
  • 18
    • 0024361474 scopus 로고
    • Dimethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine : A rapid screening procedure for mucopolysaccharidoses
    • De Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ. Dimethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine : a rapid screening procedure for mucopolysaccharidoses. Clin Chem 1989 ; 35 : 1472-7.
    • (1989) Clin Chem , vol.35 , pp. 1472-1477
    • De Jong, J.G.1    Wevers, R.A.2    Laarakkers, C.3    Poorthuis, B.J.4
  • 19
    • 2942514519 scopus 로고    scopus 로고
    • Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylene blue and Berry spot tests
    • Mabe P, Valiente A, Soto V, Cornejo VC, Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylene blue and Berry spot tests. Clin Chim Acta 2004 ; 345 : 135-40.
    • (2004) Clin Chim Acta , vol.345 , pp. 135-140
    • Mabe, P.1    Valiente, A.2    Soto, V.3    Cornejo, V.C.4    Raimann, E.5
  • 20
    • 0036354726 scopus 로고    scopus 로고
    • Urinary glycosaminoglycan excretion quantified by an automated semi-micromethod in specimens conveniently transported from around the globe
    • Whitley CB, Spielmann RC, Herro G, Teragawa SS. Urinary glycosaminoglycan excretion quantified by an automated semi-micromethod in specimens conveniently transported from around the globe. Mol Genet Metab 2002 ; 75 : 56-64.
    • (2002) Mol Genet Metab , vol.75 , pp. 56-64
    • Whitley, C.B.1    Spielmann, R.C.2    Herro, G.3    Teragawa, S.S.4
  • 21
    • 21144434782 scopus 로고    scopus 로고
    • Keratan sulphate levels in mucopolysaccharidoses and mucopolipidoses
    • Tomatsu S, Okamura K, Maeda H, et al. Keratan sulphate levels in mucopolysaccharidoses and mucopolipidoses. J Inherit Metab Dis 2005 ; 28 : 187-202.
    • (2005) J Inherit Metab Dis , vol.28 , pp. 187-202
    • Tomatsu, S.1    Okamura, K.2    Maeda, H.3
  • 22
    • 0025135526 scopus 로고
    • A fluormetric enzyme assays for the diagnostic of Morquio disease type A (MPS IVA)
    • Van Diggelen OP, Zhao H, Kleijer WJ, et al. A fluormetric enzyme assays for the diagnostic of Morquio disease type A (MPS IVA). Clin Chim Acta 1990 ; 187 : 131-9.
    • (1990) Clin Chim Acta , vol.187 , pp. 131-139
    • Van Diggelen, O.P.1    Zhao, H.2    Kleijer, W.J.3
  • 23
    • 0028928337 scopus 로고
    • Mucopolysaccharidosis IVA : Screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene
    • Ogawa T, Tomatsu S, Fukuda S, et al. Mucopolysaccharidosis IVA : screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mol Genet 1995 ; 4 : 341-9.
    • (1995) Hum Mol Genet , vol.4 , pp. 341-349
    • Ogawa, T.1    Tomatsu, S.2    Fukuda, S.3
  • 24
    • 37749027248 scopus 로고
    • Actualités diagnostiques et thérapeutiques des mucopolysaccharidoses
    • Maire I. Actualités diagnostiques et thérapeutiques des mucopolysaccharidoses. Micro Hyg Ali 1993 ; 12 : 20-6.
    • (1993) Micro Hyg Ali , vol.12 , pp. 20-26
    • Maire, I.1
  • 25
    • 2942588994 scopus 로고    scopus 로고
    • Enzyme remplacement and enhancement therapies for lysosomal diseases
    • Desnick RJ. Enzyme remplacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004 ; 27 : 385-410.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 385-410
    • Desnick, R.J.1
  • 26
    • 37749031883 scopus 로고    scopus 로고
    • Indications et résultats des transplantations de cellule souches hématopoiétiques dans les maladies de surcharge lysosomale
    • Souillet G. Indications et résultats des transplantations de cellule souches hématopoiétiques dans les maladies de surcharge lysosomale. Maghreb Médical 1999 (Suppl.) : 22-6.
    • (1999) Maghreb Médical , Issue.SUPPL. , pp. 22-26
    • Souillet, G.1
  • 27
    • 0030045091 scopus 로고    scopus 로고
    • Thérapie génique des maladies lysosmales
    • Poenaru L. Thérapie génique des maladies lysosmales. Med Sci (Paris) 1996 ; 12 : 35-46.
    • (1996) Med Sci (Paris) , vol.12 , pp. 35-46
    • Poenaru, L.1
  • 28
    • 2942596259 scopus 로고    scopus 로고
    • Treatment of lysosomal storage disorders : Cell therapy and gene therapy
    • Eto Y, Shen JS, Meng XL, Ohashi T. Treatment of lysosomal storage disorders : cell therapy and gene therapy. J Inherit Metab Dis 2004 ; 27 : 411-5.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 411-415
    • Eto, Y.1    Shen, J.S.2    Meng, X.L.3    Ohashi, T.4
  • 29
    • 0035195967 scopus 로고    scopus 로고
    • Various cells retrovirally transduced with n-acetylgalactosamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro
    • Toietta G, Severini GM, Taversari C, et al. Various cells retrovirally transduced with n-acetylgalactosamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. Hum Gene Ther 2001 ; 12 : 2007-16.
    • (2001) Hum Gene Ther , vol.12 , pp. 2007-2016
    • Toietta, G.1    Severini, G.M.2    Taversari, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.