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Volumn 106, Issue 4, 2012, Pages 395-402

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Author keywords

Biological markers; Lysosomal storage disease; Mucopolysaccharidoses

Indexed keywords

BIOLOGICAL MARKER; CERAMIDE; DIPEPTIDYL PEPTIDASE IV; GANGLIOSIDE GM2; GANGLIOSIDE GM3; GLYCOSAMINOGLYCAN; GLYCOSPHINGOLIPID; HEPARIN COFACTOR II; OLIGOSACCHARIDE; TOLL LIKE RECEPTOR 4; TUMOR NECROSIS FACTOR ALPHA;

EID: 84864360492     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.003     Document Type: Review
Times cited : (29)

References (77)
  • 1
    • 84871838920 scopus 로고    scopus 로고
    • Predictive genomic biomarkers
    • (Electronic publication ahead of print)
    • Kumar R., Amado R.G. Predictive genomic biomarkers. Curr. Top. Microbiol. Immunol. Aug 30 2011, (Electronic publication ahead of print), http://dx.doi.org.10.1007/82_2011_164.
    • (2011) Curr. Top. Microbiol. Immunol.
    • Kumar, R.1    Amado, R.G.2
  • 7
    • 33751187897 scopus 로고    scopus 로고
    • The molecular diversity of glycosaminoglycans shapes animal development
    • Bülow H.E., Hobert O. The molecular diversity of glycosaminoglycans shapes animal development. Annu. Rev. Cell Dev. Biol. 2006, 22:375-407.
    • (2006) Annu. Rev. Cell Dev. Biol. , vol.22 , pp. 375-407
    • Bülow, H.E.1    Hobert, O.2
  • 8
    • 30744451472 scopus 로고    scopus 로고
    • Glycosaminoglycans and their proteoglycans: host-associated molecular patterns for initiation and modulation of inflammation
    • Taylor K.R., Gallo R.L. Glycosaminoglycans and their proteoglycans: host-associated molecular patterns for initiation and modulation of inflammation. FASEB J. 2006, 20:9-22.
    • (2006) FASEB J. , vol.20 , pp. 9-22
    • Taylor, K.R.1    Gallo, R.L.2
  • 9
    • 38949143787 scopus 로고    scopus 로고
    • The mucopolysaccharidoses: a success of molecular medicine
    • Clarke L.A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med. 2008, 10:e1.
    • (2008) Expert Rev. Mol. Med. , vol.10
    • Clarke, L.A.1
  • 10
    • 34247610845 scopus 로고    scopus 로고
    • Heparan sulphate proteoglycans fine-tune mammalian physiology
    • Bishop J.R., Schuksz M., Esko J.D. Heparan sulphate proteoglycans fine-tune mammalian physiology. Nature 2007, 446:1030-1037.
    • (2007) Nature , vol.446 , pp. 1030-1037
    • Bishop, J.R.1    Schuksz, M.2    Esko, J.D.3
  • 11
    • 70649099318 scopus 로고    scopus 로고
    • Glycosaminoglycan chains affect exocytic and endocytic protein traffic
    • Kobialka S., Beuret N., Ben-Tekaya H., Spiess M. Glycosaminoglycan chains affect exocytic and endocytic protein traffic. Traffic 2009, 10:1845-1855.
    • (2009) Traffic , vol.10 , pp. 1845-1855
    • Kobialka, S.1    Beuret, N.2    Ben-Tekaya, H.3    Spiess, M.4
  • 12
    • 61649087423 scopus 로고    scopus 로고
    • Self-eating in skeletal development: implications for lysosomal storage disorders
    • Settembre C., Arteaga-Solis E., Ballabio A., Karsenty G. Self-eating in skeletal development: implications for lysosomal storage disorders. Autophagy 2009, 5:228-229.
    • (2009) Autophagy , vol.5 , pp. 228-229
    • Settembre, C.1    Arteaga-Solis, E.2    Ballabio, A.3    Karsenty, G.4
  • 13
    • 79953193429 scopus 로고    scopus 로고
    • Secondary storage of dermatan sulfate in Sanfilippo disease
    • Lamanna W.C., Lawrence R., Sarrazin S., Esko J.D. Secondary storage of dermatan sulfate in Sanfilippo disease. J. Biol. Chem. 2011, 286:6955-6962.
    • (2011) J. Biol. Chem. , vol.286 , pp. 6955-6962
    • Lamanna, W.C.1    Lawrence, R.2    Sarrazin, S.3    Esko, J.D.4
  • 14
    • 62949156035 scopus 로고    scopus 로고
    • Secondary lipid accumulation in lysosomal disease
    • Walkley S.U., Vanier M.T. Secondary lipid accumulation in lysosomal disease. Biochim. Biophys. Acta 2009, 1793:726-736.
    • (2009) Biochim. Biophys. Acta , vol.1793 , pp. 726-736
    • Walkley, S.U.1    Vanier, M.T.2
  • 17
    • 0023813491 scopus 로고
    • Methods for analysis of urinary glycosaminoglycans
    • Kodama C., Kodama T., Yosizawa Z. Methods for analysis of urinary glycosaminoglycans. J. Chromatogr. 1988, 429:293-313.
    • (1988) J. Chromatogr. , vol.429 , pp. 293-313
    • Kodama, C.1    Kodama, T.2    Yosizawa, Z.3
  • 18
    • 65249085846 scopus 로고    scopus 로고
    • On-line separations combined with MS for analysis of glycosaminoglycans
    • Zaia J. On-line separations combined with MS for analysis of glycosaminoglycans. Mass Spectrom. Rev. 2009, 28:254-272.
    • (2009) Mass Spectrom. Rev. , vol.28 , pp. 254-272
    • Zaia, J.1
  • 20
    • 80054802470 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase
    • Holley R.J., Deligny A., Wei W., Watson H.A., Niñonuevo M.R., Dagälv A., Leary J., Bigger B.W., Kjellén L., Merry C.L. Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase. J. Biol. Chem. 2011, 286:37515-37524.
    • (2011) J. Biol. Chem. , vol.286 , pp. 37515-37524
    • Holley, R.J.1    Deligny, A.2    Wei, W.3    Watson, H.A.4    Niñonuevo, M.R.5    Dagälv, A.6    Leary, J.7    Bigger, B.W.8    Kjellén, L.9    Merry, C.L.10
  • 21
    • 0032417009 scopus 로고    scopus 로고
    • Glycosaminoglycan accumulation and excretion in the mucopolysaccharidosis: characterization and basis of diagnostic test for MPS
    • Byers S., Rozaklis T., Brumfield K.L., Ranieri E., Hopwood J. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidosis: characterization and basis of diagnostic test for MPS. Mol. Genet. Metab. 1998, 65:285-290.
    • (1998) Mol. Genet. Metab. , vol.65 , pp. 285-290
    • Byers, S.1    Rozaklis, T.2    Brumfield, K.L.3    Ranieri, E.4    Hopwood, J.5
  • 24
    • 33744978567 scopus 로고    scopus 로고
    • MPS VI Phase 3 Study Group, enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
    • Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Yu Z.F., Wittes J., Berger K.I., Newman M.S., Lowe A.M., Kakkis E., Swiedler S.J. MPS VI Phase 3 Study Group, enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 2006, 148:533-539.
    • (2006) J. Pediatr. , vol.148 , pp. 533-539
    • Harmatz, P.1    Giugliani, R.2    Schwartz, I.3    Guffon, N.4    Teles, E.L.5    Miranda, M.C.6    Wraith, J.E.7    Beck, M.8    Arash, L.9    Scarpa, M.10    Yu, Z.F.11    Wittes, J.12    Berger, K.I.13    Newman, M.S.14    Lowe, A.M.15    Kakkis, E.16    Swiedler, S.J.17
  • 27
    • 79955792706 scopus 로고    scopus 로고
    • Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
    • Schulze-Frenking G., Jones S.A., Roberts J., Beck M., Wraith J.E. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J. Inherit. Metab. Dis. 2011, 34:203-208.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 203-208
    • Schulze-Frenking, G.1    Jones, S.A.2    Roberts, J.3    Beck, M.4    Wraith, J.E.5
  • 28
    • 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 Ploeg A., Shapiro E., Xue Y., Kakkis E.D., 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 2007, 120:e37-e46.
    • (2007) Pediatrics , vol.120
    • Wraith, J.E.1    Beck, M.2    Lane, R.3    van der Ploeg, A.4    Shapiro, E.5    Xue, Y.6    Kakkis, E.D.7    Guffon, N.8
  • 29
    • 62649094547 scopus 로고    scopus 로고
    • Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy
    • Wynn R.F., Wraith J.E., Mercer J., O'Meara A., Tylee K., Thornley M., Church H.J., Bigger B.W. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J. Pediatr. 2009, 154:609-611.
    • (2009) J. Pediatr. , vol.154 , pp. 609-611
    • Wynn, R.F.1    Wraith, J.E.2    Mercer, J.3    O'Meara, A.4    Tylee, K.5    Thornley, M.6    Church, H.J.7    Bigger, B.W.8
  • 30
    • 33846987553 scopus 로고    scopus 로고
    • Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease
    • Church H., Tylee K., Cooper A., Thornley M., Mercer J., Wraith E., Carr T., O'Meara A., Wynn R.F. Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant. 2007, 39:207-210.
    • (2007) Bone Marrow Transplant. , vol.39 , pp. 207-210
    • Church, H.1    Tylee, K.2    Cooper, A.3    Thornley, M.4    Mercer, J.5    Wraith, E.6    Carr, T.7    O'Meara, A.8    Wynn, R.F.9
  • 34
    • 1142310816 scopus 로고    scopus 로고
    • Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives
    • Mahalingam K., Janani S., Priya S., Elango E.M., Sundari R.M. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. Indian J. Pediatr. 2004, 71:29-32.
    • (2004) Indian J. Pediatr. , vol.71 , pp. 29-32
    • Mahalingam, K.1    Janani, S.2    Priya, S.3    Elango, E.M.4    Sundari, R.M.5
  • 35
    • 79959785835 scopus 로고    scopus 로고
    • Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points
    • Glamuzina E., Fettes E., Bainbridge K., Crook V., Finnegan N., Abulhoul L., Vellodi A. Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. J. Inherit. Metab. Dis. 2011, 34:749-754.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 749-754
    • Glamuzina, E.1    Fettes, E.2    Bainbridge, K.3    Crook, V.4    Finnegan, N.5    Abulhoul, L.6    Vellodi, A.7
  • 37
    • 77953082989 scopus 로고    scopus 로고
    • Determination of urinary noligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome
    • Nielsen T.C., Rozek T., Hopwood J.J., Fuller M. Determination of urinary noligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome. Anal. Biochem. 2010, 402:113-120.
    • (2010) Anal. Biochem. , vol.402 , pp. 113-120
    • Nielsen, T.C.1    Rozek, T.2    Hopwood, J.J.3    Fuller, M.4
  • 38
    • 73649130242 scopus 로고    scopus 로고
    • Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry
    • Tomatsu S., Montano A.M., Oguma T., Dung V.C., Oikawa H., Gutiérrez M.L. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol. Genet. Metab. 2010, 99:124-131.
    • (2010) Mol. Genet. Metab. , vol.99 , pp. 124-131
    • Tomatsu, S.1    Montano, A.M.2    Oguma, T.3    Dung, V.C.4    Oikawa, H.5    Gutiérrez, M.L.6
  • 41
    • 0019428875 scopus 로고
    • Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy
    • Federico A., Capece G., Cecio A., D'Auria N., Di Iorio G., Ronsisvalle L., Di Natale P. Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy. J. Neurol. 1981, 225:77-83.
    • (1981) J. Neurol. , vol.225 , pp. 77-83
    • Federico, A.1    Capece, G.2    Cecio, A.3    D'Auria, N.4    Di Iorio, G.5    Ronsisvalle, L.6    Di Natale, P.7
  • 42
    • 79959700144 scopus 로고    scopus 로고
    • Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry
    • Zhang H., Young S.P., Auray-Blais C., Orchard P.J., Tolar J., Millington D.S. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clin. Chem. 2011, 57:1005-1012.
    • (2011) Clin. Chem. , vol.57 , 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
  • 45
    • 79955694295 scopus 로고    scopus 로고
    • Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases
    • Langford-Smith K.J., Mercer J., Petty J., Tylee K., Church H., Roberts J., Moss G., Jones S., Wynn R., Wraith J.E., Bigger B.W. Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases. J. Inherit. Metab. Dis. 2011, 34:499-508.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 499-508
    • Langford-Smith, K.J.1    Mercer, J.2    Petty, J.3    Tylee, K.4    Church, H.5    Roberts, J.6    Moss, G.7    Jones, S.8    Wynn, R.9    Wraith, J.E.10    Bigger, B.W.11
  • 47
    • 76349090897 scopus 로고    scopus 로고
    • Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice
    • Langford-Smith K., Arasaradnam M., Wraith J.E., Wynn R., Bigger B.W. Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. Mol. Genet. Metab. 2010, 99:269-274.
    • (2010) Mol. Genet. Metab. , vol.99 , pp. 269-274
    • Langford-Smith, K.1    Arasaradnam, M.2    Wraith, J.E.3    Wynn, R.4    Bigger, B.W.5
  • 48
    • 61849105471 scopus 로고    scopus 로고
    • Discovery of a new biomarker for th mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry
    • Beesley C.E., Young E.P., Finnegan N., Jackson M., Mills K., Vellodi A., Cleary M., Winchester B.G. Discovery of a new biomarker for th mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry. Mol. Genet. Metab. 2009, 96:218-224.
    • (2009) Mol. Genet. Metab. , vol.96 , pp. 218-224
    • Beesley, C.E.1    Young, E.P.2    Finnegan, N.3    Jackson, M.4    Mills, K.5    Vellodi, A.6    Cleary, M.7    Winchester, B.G.8
  • 49
    • 0018095841 scopus 로고
    • Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls
    • Constantopoulos G., Dekaban A.S. Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls. J. Neurochem. 1978, 30:965-973.
    • (1978) J. Neurochem. , vol.30 , pp. 965-973
    • Constantopoulos, G.1    Dekaban, A.S.2
  • 50
    • 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 S.U. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J. Comp. Neurol. 2004, 480:415-426.
    • (2004) J. Comp. Neurol. , vol.480 , pp. 415-426
    • McGlynn, R.1    Dobrenis, K.2    Walkley, S.U.3
  • 51
    • 33947597422 scopus 로고    scopus 로고
    • Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome
    • Walkley S.U. Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome. Acta Paediatr. Suppl. 2007, 96:26-32.
    • (2007) Acta Paediatr. Suppl. , vol.96 , pp. 26-32
    • Walkley, S.U.1
  • 57
    • 0034814719 scopus 로고    scopus 로고
    • Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses
    • Simonaro C.M., Haskins M.E., Schuchman E.H. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab. Invest. 2001, 81:1319-1328.
    • (2001) Lab. Invest. , vol.81 , pp. 1319-1328
    • Simonaro, C.M.1    Haskins, M.E.2    Schuchman, E.H.3
  • 58
    • 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., Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 2005, 57:701-707.
    • (2005) Pediatr. Res. , vol.57 , pp. 701-707
    • Simonaro, C.M.1    D'Angelo, M.2    Haskins, M.E.3    Schuchman, E.H.4
  • 59
    • 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., Schuchman E.H. Mechanism of glycosaminoglycan-mediated bone and joint disease: Implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 2008, 172:112-122.
    • (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
  • 60
    • 76249093889 scopus 로고    scopus 로고
    • Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses
    • Simonaro C.M., Ge Y., Eliyahu E., He X., Jepsen K.J., Schuchman E.H. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:222-227.
    • (2010) Proc. Natl. Acad. Sci. U. S. A. , vol.107 , pp. 222-227
    • Simonaro, C.M.1    Ge, Y.2    Eliyahu, E.3    He, X.4    Jepsen, K.J.5    Schuchman, E.H.6
  • 61
    • 80051940065 scopus 로고    scopus 로고
    • Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with Mucopolysaccharidosis type VI
    • Eliyahu E., Wolfson T., Ge Y., Jepsen K.J., Schuchman E.H., Simonaro C.M. Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with Mucopolysaccharidosis type VI. PLoS One 2011, 6:e22447.
    • (2011) PLoS One , vol.6
    • Eliyahu, E.1    Wolfson, T.2    Ge, Y.3    Jepsen, K.J.4    Schuchman, E.H.5    Simonaro, C.M.6
  • 68
    • 77955628574 scopus 로고    scopus 로고
    • Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II
    • Fan Z., Styner M., Muenzer J., Poe M., Escolar M. Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. AJNR Am. J. Neuroradiol. 2010, 31:1319-1323.
    • (2010) AJNR Am. J. Neuroradiol. , vol.31 , pp. 1319-1323
    • Fan, Z.1    Styner, M.2    Muenzer, J.3    Poe, M.4    Escolar, M.5
  • 69
    • 84897920741 scopus 로고    scopus 로고
    • Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome)
    • (Electronic publication ahead of print)
    • Davison J.E., Hendriksz C.J., Sun Y., Davies N.P., Gissen P., Peet A.C. Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome). J. Inherit. Metab. Dis. Oct 1 2010, (Electronic publication ahead of print), http://dx.doi.org.10.1007/s10545-010-9197-0.
    • (2010) J. Inherit. Metab. Dis.
    • Davison, J.E.1    Hendriksz, C.J.2    Sun, Y.3    Davies, N.P.4    Gissen, P.5    Peet, A.C.6
  • 70
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
    • Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93:1288-1292.
    • (1994) J. Clin. Invest. , vol.93 , pp. 1288-1292
    • Hollak, C.E.1    van Weely, S.2    van Oers, M.H.3    Aerts, J.M.4
  • 72
    • 0035152361 scopus 로고    scopus 로고
    • Clinically relevant therapeutic endpoints in type 1 Gaucher disease
    • Hollak C., Maas M., Aerts J. Clinically relevant therapeutic endpoints in type 1 Gaucher disease. J. Inherit. Metab. Dis. 2001, 24:97-105.
    • (2001) J. Inherit. Metab. Dis. , vol.24 , pp. 97-105
    • Hollak, C.1    Maas, M.2    Aerts, J.3
  • 75
    • 34848926255 scopus 로고    scopus 로고
    • Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations - implications for diagnosis and therapeutic monitoring
    • Grace M.E., Balwani M., Nazarenko I., Prakash-Cheng A., Desnick R.J. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations - implications for diagnosis and therapeutic monitoring. Hum. Mutat. 2007, 28:866-873.
    • (2007) Hum. Mutat. , vol.28 , pp. 866-873
    • Grace, M.E.1    Balwani, M.2    Nazarenko, I.3    Prakash-Cheng, A.4    Desnick, R.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.