메뉴 건너뛰기




Volumn , Issue , 2007, Pages 415-432

Sanfilippo syndrome: Clinical genetic diagnosis and therapies

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84880201188     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-70909-3_26     Document Type: Chapter
Times cited : (5)

References (85)
  • 3
    • 0034811202 scopus 로고    scopus 로고
    • Extraneurologic symptoms as presenting signs of Sanfilippo disease
    • 2001 Sep
    • Barone R, Fiumara A, Villani GR, Di Natale P, Pavone L (2001) Extraneurologic symptoms as presenting signs of Sanfilippo disease. Pediatr Neurol. 2001 Sep; 25(3):254-7.
    • (2001) Pediatr Neurol. , vol.25 , Issue.3 , pp. 254-257
    • Barone, R.1    Fiumara, A.2    Villani, G.R.3    Di Natale, P.4    Pavone, L.5
  • 4
    • 0037338208 scopus 로고    scopus 로고
    • Sanfilippo syndrome type D: Identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
    • Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP (2003) Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene J Med Genet. 40:192-4.
    • (2003) J Med Genet. , vol.40 , pp. 192-194
    • Beesley, C.E.1    Burke, D.2    Jackson, M.3    Vellodi, A.4    Winchester, B.G.5    Young, E.P.6
  • 5
    • 0035092770 scopus 로고    scopus 로고
    • A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
    • Bhattacharyya R, Gliddon B, Beccari T, Hopwood JJ, Stanley P (2001) A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 11:99-103.
    • (2001) Glycobiology , vol.11 , pp. 99-103
    • Bhattacharyya, R.1    Gliddon, B.2    Beccari, T.3    Hopwood, J.J.4    Stanley, P.5
  • 8
    • 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 (1998) Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab 65:282-290.
    • (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
  • 9
    • 0028963681 scopus 로고
    • Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence
    • Cavanagh KT, Leipprandt JR, Jones MZ, Friderici K (1995) Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence. J Inherit Metab Dis. 18:96.
    • (1995) J Inherit Metab Dis. , vol.18 , pp. 96
    • Cavanagh, K.T.1    Leipprandt, J.R.2    Jones, M.Z.3    Friderici, K.4
  • 10
    • 0018825881 scopus 로고
    • Sanfilippo A disease in the fetus-comparison with pre- and postnatal cases
    • Ceuterick C, Martin JJ, Libert J, Farriaux JP (1980) Sanfilippo A disease in the fetus-comparison with pre- and postnatal cases. Neuropadiatrie 11:176-85.
    • (1980) Neuropadiatrie , vol.11 , pp. 176-185
    • Ceuterick, C.1    Martin, J.J.2    Libert, J.3    Farriaux, J.P.4
  • 11
    • 8544258806 scopus 로고    scopus 로고
    • Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum
    • Cressant A, Desmaris N, Verot L, Brejot T, Froissart R, Vanier MT, Maire I, Heard JM (2004) Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci. 24:10229-39.
    • (2004) J Neurosci. , vol.24 , pp. 10229-10239
    • Cressant, A.1    Desmaris, N.2    Verot, L.3    Brejot, T.4    Froissart, R.5    Vanier, M.T.6    Maire, I.7    Heard, J.M.8
  • 12
    • 0037024276 scopus 로고    scopus 로고
    • Synthesis of 7-O-(2-deoxy-2-sulfamido-alpha-D-glucopyranosyl)-4-methylcoumarin sodium salt: A fluorogenic substrate for sulfamidase
    • Dasgupta F, Masada RI (2002) Synthesis of 7-O-(2-deoxy-2-sulfamido-alpha-D-glucopyranosyl)-4-methylcoumarin sodium salt: a fluorogenic substrate for sulfamidase. Carbohydr Res. 337:1055-8.
    • (2002) Carbohydr Res. , vol.337 , pp. 1055-1058
    • Dasgupta, F.1    Masada, R.I.2
  • 13
    • 0031881355 scopus 로고    scopus 로고
    • Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type
    • Date Y, Ohi T, Shioya K, Sukegawa K, Matsukura S (1998) Clinical and neuroradiological evaluation of the long-term surviving siblings of Sanfilippo syndrome A type Brain Nerve 50:165-9.
    • (1998) Brain Nerve , vol.50 , pp. 165-169
    • Date, Y.1    Ohi, T.2    Shioya, K.3    Sukegawa, K.4    Matsukura, S.5
  • 15
    • 0031956682 scopus 로고    scopus 로고
    • Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations
    • Di Natale P, Balzano N, Esposito S, Villani GR (1998) Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 11:313-20.
    • (1998) Hum Mutat , vol.11 , pp. 313-320
    • Di Natale, P.1    Balzano, N.2    Esposito, S.3    Villani, G.R.4
  • 19
    • 0022514951 scopus 로고
    • Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties
    • Freeman C, Hopwood JJ (1986) Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties. Biochem J. 234(1):83-92.
    • (1986) Biochem J. , vol.234 , Issue.1 , pp. 83-92
    • Freeman, C.1    Hopwood, J.J.2
  • 20
    • 0023219385 scopus 로고
    • Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties
    • Freeman C, Hopwood JJ (1987) Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties. Biochem J. 246:355-65.
    • (1987) Biochem J. , vol.246 , pp. 355-365
    • Freeman, C.1    Hopwood, J.J.2
  • 21
    • 0023219384 scopus 로고
    • Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization
    • Freeman C, Clements PR, Hopwood JJ (1987) Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization. Biochem J. 246:347-54.
    • (1987) Biochem J. , vol.246 , pp. 347-354
    • Freeman, C.1    Clements, P.R.2    Hopwood, J.J.3
  • 22
    • 0026050194 scopus 로고
    • Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates
    • Freeman C, Hopwood JJ (1991) Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates. Biochem J. 279:399-405.
    • (1991) Biochem J. , vol.279 , pp. 399-405
    • Freeman, C.1    Hopwood, J.J.2
  • 23
    • 2942544965 scopus 로고    scopus 로고
    • Glycosaminoglycan degradation fragments in mucopolysaccharidosis I
    • Fuller M, Meikle PJ, Hopwood JJ (2004a) Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology 14:443-50.
    • (2004) Glycobiology , vol.14 , pp. 443-450
    • Fuller, M.1    Meikle, P.J.2    Hopwood, J.J.3
  • 25
    • 33645106892 scopus 로고    scopus 로고
    • A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates
    • Fuller M, Chau A, Nowak RC, Hopwood JJ, Meikle PJ (2006) A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates. Glycobiology 16:318-325.
    • (2006) Glycobiology , vol.16 , pp. 318-325
    • Fuller, M.1    Chau, A.2    Nowak, R.C.3    Hopwood, J.J.4    Meikle, P.J.5
  • 27
    • 0035870166 scopus 로고    scopus 로고
    • Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: Application to clinical enzymology
    • Gerber SA, Scott CR, Turecek F, Gelb MH (2001) Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology. Anal Chem. 73:1651-7.
    • (2001) Anal Chem. , vol.73 , pp. 1651-1657
    • Gerber, S.A.1    Scott, C.R.2    Turecek, F.3    Gelb, M.H.4
  • 29
    • 3042647298 scopus 로고    scopus 로고
    • Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice
    • Gliddon BL, Hopwood JJ (2004) Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatr Res. 56:65-72.
    • (2004) Pediatr Res. , vol.56 , pp. 65-72
    • Gliddon, B.L.1    Hopwood, J.J.2
  • 30
    • 8144219864 scopus 로고    scopus 로고
    • Purification and characterization of recombinant murine sulfamidase
    • Gliddon BL, Yogalingam G, Hopwood JJ (2004) Purification and characterization of recombinant murine sulfamidase. Mol Genet Metab. 83:239-45.
    • (2004) Mol Genet Metab. , vol.83 , pp. 239-245
    • Gliddon, B.L.1    Yogalingam, G.2    Hopwood, J.J.3
  • 33
    • 13444287759 scopus 로고    scopus 로고
    • Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA)
    • Hemsley KM, Hopwood JJ (2005) Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav Brain Res. 158:191-9.
    • (2005) Behav Brain Res. , vol.158 , pp. 191-199
    • Hemsley, K.M.1    Hopwood, J.J.2
  • 35
    • 14744278895 scopus 로고    scopus 로고
    • Prenatal diagnosis of Sanfilippo syndrome
    • Hopwood JJ (2005) Prenatal diagnosis of Sanfilippo syndrome. Prenat Diagn. 25:148-50.
    • (2005) Prenat Diagn. , vol.25 , pp. 148-150
    • Hopwood, J.J.1
  • 36
    • 0019491537 scopus 로고
    • The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity
    • Hopwood JJ, Elliott (1981) The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity Clin Chim Acta. 112:67-75.
    • (1981) Clin Chim Acta. , vol.112 , pp. 67-75
    • Hopwood, J.J.1    Elliott2
  • 37
    • 0020042564 scopus 로고
    • Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase
    • Hopwood JJ, Elliott H (1982a) Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. Clin Chim Acta. 120:77-86.
    • (1982) Clin Chim Acta. , vol.120 , pp. 77-86
    • Hopwood, J.J.1    Elliott, H.2
  • 38
    • 0020030423 scopus 로고
    • Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate
    • Hopwood JJ, Elliott H (1982b) Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Clin Chim Acta. 123:241-50.
    • (1982) Clin Chim Acta. , vol.123 , pp. 241-250
    • Hopwood, J.J.1    Elliott, H.2
  • 39
    • 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. 119:120-7.
    • (1982) Anal Biochem. , vol.119 , pp. 120-127
    • Hopwood, J.J.1    Harrison, J.R.2
  • 40
    • 0025666525 scopus 로고
    • The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment
    • Hopwood JJ, Morris CP (1990) The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment. Mol Biol Med. 7:381-404.
    • (1990) Mol Biol Med. , vol.7 , pp. 381-404
    • Hopwood, J.J.1    Morris, C.P.2
  • 42
    • 0034287726 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia
    • Jolly RD, Allan FJ, Collett M, Rozaklis T, Muller V, Hopwood JJ (2000) Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. N Z Vet J. 48:144-8.
    • (2000) N Z Vet J. , vol.48 , pp. 144-148
    • Jolly, R.D.1    Allan, F.J.2    Collett, M.3    Rozaklis, T.4    Muller, V.5    Hopwood, J.J.6
  • 43
    • 0014604531 scopus 로고
    • Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria
    • Kaplan D (1969) Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria. Amer. J Med 47:721.
    • (1969) Amer. J Med , vol.47 , pp. 721
    • Kaplan, D.1
  • 46
    • 32044448993 scopus 로고    scopus 로고
    • Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopoly-saccharidosis type IIIA
    • King B, Savas P, Fuller M, Hopwood J, Hemsley K (2006) Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopoly-saccharidosis type IIIA. Mol Genet Metab 87:107-112.
    • (2006) Mol Genet Metab , vol.87 , pp. 107-112
    • King, B.1    Savas, P.2    Fuller, M.3    Hopwood, J.4    Hemsley, K.5
  • 47
    • 0015211341 scopus 로고
    • Biochemical heterogeneity of the Sanfilippo syndrome: Preliminary characterization of two deficient factors
    • Kresse H, Wiesman U, Cantz M, Hall CW, Neufeld EF (1971) Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun 42:892-8.
    • (1971) Biochem Biophys Res Commun , vol.42 , pp. 892-898
    • Kresse, H.1    Wiesman, U.2    Cantz, M.3    Hall, C.W.4    Neufeld, E.F.5
  • 53
    • 33745686152 scopus 로고    scopus 로고
    • Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry
    • Mason KE, Meikle PJ, Hopwood JJ, Fuller M (2006) Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry. Anal Chem; 78:4534-42.
    • (2006) Anal Chem , vol.78 , pp. 4534-4542
    • Mason, K.E.1    Meikle, P.J.2    Hopwood, J.J.3    Fuller, M.4
  • 54
    • 0021958406 scopus 로고
    • 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease
    • Marsh J, Fensom, AH (1985) 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin. Genet. 27:258-62.
    • (1985) Clin. Genet. , vol.27 , pp. 258-262
    • Marsh, J.1    Fensom, A.H.2
  • 55
    • 9744229206 scopus 로고    scopus 로고
    • Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
    • McGlynn R, Dobrenis K, Walkley SU (2004) Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol. 480:415-26.
    • (2004) J Comp Neurol. , vol.480 , pp. 415-426
    • McGlynn, R.1    Dobrenis, K.2    Walkley, S.U.3
  • 57
    • 0028989710 scopus 로고
    • Human acetyl-coenzyme A: Alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation
    • Meikle PJ, Whittle AM, Hopwood JJ (1995) Human acetyl-coenzyme A: alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. Biochem J. 308:327-33.
    • (1995) Biochem J. , vol.308 , pp. 327-333
    • Meikle, P.J.1    Whittle, A.M.2    Hopwood, J.J.3
  • 58
    • 0036903078 scopus 로고    scopus 로고
    • An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
    • Miyazaki T, Musuda N, Waragai M, Motoyoshi Y, Kurokawa K, Yuasa T (2002) An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene J Neurol NNeurosurg Psych 73:777-8.
    • (2002) J Neurol NNeurosurg Psych , vol.73 , pp. 777-778
    • Miyazaki, T.1    Musuda, N.2    Waragai, M.3    Motoyoshi, Y.4    Kurokawa, K.5    Yuasa, T.6
  • 61
    • 0037289510 scopus 로고    scopus 로고
    • Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
    • Mok A, Cao H, Hegele RA (2003) Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics 81:1-5.
    • (2003) Genomics , vol.81 , pp. 1-5
    • Mok, A.1    Cao, H.2    Hegele, R.A.3
  • 63
    • 0033601221 scopus 로고    scopus 로고
    • Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome
    • Perkins KJ, Byers S, Yogalingam G, Weber B, Hopwood JJ (1999) Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. J Biol Chem. 274:37193-9.
    • (1999) J Biol Chem. , vol.274 , pp. 37193-37199
    • Perkins, K.J.1    Byers, S.2    Yogalingam, G.3    Weber, B.4    Hopwood, J.J.5
  • 64
    • 0034854439 scopus 로고    scopus 로고
    • Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
    • Perkins KJ, Muller V, Weber B, Hopwood JJ (2001) Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab. 73:306-12.
    • (2001) Mol Genet Metab. , vol.73 , pp. 306-312
    • Perkins, K.J.1    Muller, V.2    Weber, B.3    Hopwood, J.J.4
  • 68
    • 0026480405 scopus 로고
    • A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases
    • Robertson DA, Freeman C, Morris CP, Hopwood JJ (1992) A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. Biochem J. 288:539-44.
    • (1992) Biochem J. , vol.288 , pp. 539-544
    • Robertson, D.A.1    Freeman, C.2    Morris, C.P.3    Hopwood, J.J.4
  • 70
    • 0032841451 scopus 로고    scopus 로고
    • Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling
    • Sivakumur P, Wraith JE (1999) Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis. 22:849-50.
    • (1999) J Inherit Metab Dis. , vol.22 , pp. 849-850
    • Sivakumur, P.1    Wraith, J.E.2
  • 72
    • 0022396459 scopus 로고
    • Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B
    • Tamagawa K, Morimatsu Y, Fujisawa K, Hara A, Taketomi T (1985) Neuropathological study and chemico-pathological correlation in sibling cases of Sanfilippo syndrome type B. Brain Dev. 7:599-609.
    • (1985) Brain Dev. , vol.7 , pp. 599-609
    • Tamagawa, K.1    Morimatsu, Y.2    Fujisawa, K.3    Hara, A.4    Taketomi, T.5
  • 73
    • 0026712987 scopus 로고
    • N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
    • Thompson JN, Jones MZ, Dawson G, Huffman PS (1992) N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J Inherit Metab Dis. 15:760-8.
    • (1992) J Inherit Metab Dis. , vol.15 , pp. 760-768
    • Thompson, J.N.1    Jones, M.Z.2    Dawson, G.3    Huffman, P.S.4
  • 74
    • 0036482941 scopus 로고    scopus 로고
    • Molecular diagnostics in preimplantation genetic diagnosis
    • Thornhill AR, Snow K (2002) Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn. 4:11-29.
    • (2002) J Mol Diagn. , vol.4 , pp. 11-29
    • Thornhill, A.R.1    Snow, K.2
  • 75
    • 15244355223 scopus 로고    scopus 로고
    • Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates
    • Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Kuwahara J, Yamanaka S, Itoh K (2005) Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates. J Neurochem 92:1497-507.
    • (2005) J Neurochem , vol.92 , pp. 1497-1507
    • Tsuji, D.1    Kuroki, A.2    Ishibashi, Y.3    Itakura, T.4    Kuwahara, J.5    Yamanaka, S.6    Itoh, K.7
  • 76
    • 0034911699 scopus 로고    scopus 로고
    • Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease
    • Umapathysivam K, Hopwood JJ, Meikle PJ (2001) Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem. 47:1378-83.
    • (2001) Clin Chem. , vol.47 , pp. 1378-1383
    • Umapathysivam, K.1    Hopwood, J.J.2    Meikle, P.J.3
  • 79
    • 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, Chamoles NA, Turecek F, Scott CR, Gelb MH (2005) Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem. 51:898-900.
    • (2005) Clin Chem. , vol.51 , pp. 898-900
    • Wang, D.1    Eadala, B.2    Sadilek, M.3    Chamoles, N.A.4    Turecek, F.5    Scott, C.R.6    Gelb, M.H.7
  • 80
    • 0029994363 scopus 로고    scopus 로고
    • Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
    • Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (1996) Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet. 5:771-7.
    • (1996) Hum Mol Genet. , vol.5 , pp. 771-777
    • Weber, B.1    Blanch, L.2    Clements, P.R.3    Scott, H.S.4    Hopwood, J.J.5
  • 83
    • 0034810802 scopus 로고    scopus 로고
    • Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
    • Yogalingam G, Hopwood JJ (2001) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat. 18:264-81.
    • (2001) Hum Mutat. , vol.18 , pp. 264-281
    • Yogalingam, G.1    Hopwood, J.J.2
  • 84
    • 0035708854 scopus 로고    scopus 로고
    • Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs
    • Yogalingam G, Pollard T, Gliddon B, Jolly RD, Hopwood JJ (2002) Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics. 79:150-3.
    • (2002) Genomics. , vol.79 , pp. 150-153
    • Yogalingam, G.1    Pollard, T.2    Gliddon, B.3    Jolly, R.D.4    Hopwood, J.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.