-
2
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
Martin R., Beck M., Eng C., Giugliani R., Harmatz P., Munoz V., and Muenzer J. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121 (2008) e377-386
-
(2008)
Pediatrics
, vol.121
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Munoz, V.6
Muenzer, J.7
-
3
-
-
41049096402
-
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II
-
Wraith J.E. Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II. Acta. Paediatr. Suppl. 97 (2008) 76-78
-
(2008)
Acta. Paediatr. Suppl.
, vol.97
, pp. 76-78
-
-
Wraith, J.E.1
-
5
-
-
0037390834
-
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations
-
Kim C.H., Hwang H.Z., Song S.M., Paik K.H., Kwon E.K., Moon K.B., Yoon J.H., Han C.K., and Jin D.K. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum. Mutat. 21 (2003) 449-450
-
(2003)
Hum. Mutat.
, vol.21
, pp. 449-450
-
-
Kim, C.H.1
Hwang, H.Z.2
Song, S.M.3
Paik, K.H.4
Kwon, E.K.5
Moon, K.B.6
Yoon, J.H.7
Han, C.K.8
Jin, D.K.9
-
6
-
-
0031044151
-
Molecular and phenotypic variation in patients with severe Hunter syndrome
-
Timms K.M., Bondeson M.L., Ansari-Lari M.A., Lagerstedt K., Muzny D.M., Dugan-Rocha S.P., Nelson D.L., Pettersson U., and Gibbs R.A. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum. Mol. Genet. 6 (1997) 479-486
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 479-486
-
-
Timms, K.M.1
Bondeson, M.L.2
Ansari-Lari, M.A.3
Lagerstedt, K.4
Muzny, D.M.5
Dugan-Rocha, S.P.6
Nelson, D.L.7
Pettersson, U.8
Gibbs, R.A.9
-
7
-
-
0031664386
-
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)
-
Vafiadaki E., Cooper A., Heptinstall L.E., Hatton C.E., Thornley M., and Wraith J.E. Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch. Dis. Child. 79 (1998) 237-241
-
(1998)
Arch. Dis. Child.
, vol.79
, pp. 237-241
-
-
Vafiadaki, E.1
Cooper, A.2
Heptinstall, L.E.3
Hatton, C.E.4
Thornley, M.5
Wraith, J.E.6
-
8
-
-
0032933620
-
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
-
Li P., Bellows A.B., and Thompson J.N. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J. Med. Genet. 36 (1999) 21-27
-
(1999)
J. Med. Genet.
, vol.36
, pp. 21-27
-
-
Li, P.1
Bellows, A.B.2
Thompson, J.N.3
-
9
-
-
0025869960
-
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
-
Wilson P.J., Suthers G.K., Callen D.F., Baker E., Nelson P.V., Cooper A., Wraith J.E., Sutherland G.R., Morris C.P., and Hopwood J.J. Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. Hum. Genet. 86 (1991) 505-508
-
(1991)
Hum. Genet.
, vol.86
, pp. 505-508
-
-
Wilson, P.J.1
Suthers, G.K.2
Callen, D.F.3
Baker, E.4
Nelson, P.V.5
Cooper, A.6
Wraith, J.E.7
Sutherland, G.R.8
Morris, C.P.9
Hopwood, J.J.10
-
10
-
-
0027282627
-
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families
-
Yamada Y., Tomatsu S., Sukegawa K., Suzuki Y., Kondo N., Hopwood J.J., and Orii T. Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Hum. Genet. 92 (1993) 110-114
-
(1993)
Hum. Genet.
, vol.92
, pp. 110-114
-
-
Yamada, Y.1
Tomatsu, S.2
Sukegawa, K.3
Suzuki, Y.4
Kondo, N.5
Hopwood, J.J.6
Orii, T.7
-
11
-
-
34548189793
-
Natural history of extensive Mongolian spots in Mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients
-
Ochiai T., Suzuki Y., Kato T., Shichino H., Chin M., Mugishima H., and Orii T. Natural history of extensive Mongolian spots in Mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. J. Eur. Acad. Dermatol. Venereol. 21 (2007) 1082-1085
-
(2007)
J. Eur. Acad. Dermatol. Venereol.
, vol.21
, pp. 1082-1085
-
-
Ochiai, T.1
Suzuki, Y.2
Kato, T.3
Shichino, H.4
Chin, M.5
Mugishima, H.6
Orii, T.7
-
12
-
-
0033585476
-
-
Meikle P.J., Hopwood J.J., Claque A.E., and Carey W.F. Prevalence of lysosomal storage disorders, JAMA. 281 (1999) 249-254
-
(1999)
Prevalence of lysosomal storage disorders, JAMA.
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Claque, A.E.3
Carey, W.F.4
-
13
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis B.J., Wevers R.A., Kleijer W.J., Groener J.E., de Jong J.G., van Weely S., Niezen-Koning K.E., and van Diggelen O.P. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 105 (1999) 151-156
-
(1999)
Hum. Genet.
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.4
de Jong, J.G.5
van Weely, S.6
Niezen-Koning, K.E.7
van Diggelen, O.P.8
-
14
-
-
10744233030
-
Prevalence of lysosomal storage diseases in Portugal
-
Pinto R., Caseiro C., Lemos M., Lopes L., Fontes A., Ribeiro H., Pinto E., Silva E., Rocha S., Marcao A., Ribeiro I., Lacerda L., Ribeiro G., Amaral O., and Sa Miranda M.C. Prevalence of lysosomal storage diseases in Portugal. Eur. J. Hum. Genet. 12 (2004) 87-92
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, pp. 87-92
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
Lopes, L.4
Fontes, A.5
Ribeiro, H.6
Pinto, E.7
Silva, E.8
Rocha, S.9
Marcao, A.10
Ribeiro, I.11
Lacerda, L.12
Ribeiro, G.13
Amaral, O.14
Sa Miranda, M.C.15
-
15
-
-
31644446680
-
Cumulative incidence rates of the mucopolysaccharidoses in Germany
-
Baehner F., Schmiedeskamp C., Krummenauer F., Miebach E., Bajbouj M., Whybra C., Kohlschutter A., Kampmann C., and Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J. Inherit. Metab. Dis. 28 (2005) 1011-1017
-
(2005)
J. Inherit. Metab. Dis.
, vol.28
, pp. 1011-1017
-
-
Baehner, F.1
Schmiedeskamp, C.2
Krummenauer, F.3
Miebach, E.4
Bajbouj, M.5
Whybra, C.6
Kohlschutter, A.7
Kampmann, C.8
Beck, M.9
-
16
-
-
0032998144
-
Long-term follow-up following bone marrow transplantation for Hunter disease
-
Vellodi A., Young E., Cooper A., Lidchi V., Winchester B., and Wraith J.E. Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis. 22 (1999) 638-648
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 638-648
-
-
Vellodi, A.1
Young, E.2
Cooper, A.3
Lidchi, V.4
Winchester, B.5
Wraith, J.E.6
-
18
-
-
0036984005
-
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report
-
Muenzer J., Lamsa J.C., Garcia A., Dacosta J., Garcia J., and Treco D.A. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta. Paediatr. Suppl. 91 (2002) 98-99
-
(2002)
Acta. Paediatr. Suppl.
, vol.91
, pp. 98-99
-
-
Muenzer, J.1
Lamsa, J.C.2
Garcia, A.3
Dacosta, J.4
Garcia, J.5
Treco, D.A.6
-
19
-
-
33846899175
-
A phase I/II clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J., Gucsavas-Calikoglu M., McCandless S.E., Schuetz T.J., and Kimura A. A phase I/II clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Mol. Genet. Metab. 8 (2007) 329-337
-
(2007)
Mol. Genet. Metab.
, vol.8
, pp. 329-337
-
-
Muenzer, J.1
Gucsavas-Calikoglu, M.2
McCandless, S.E.3
Schuetz, T.J.4
Kimura, A.5
-
20
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J., Wraith J.E., Beck M., Giugliani R., Harmatz P., Eng C.M., Vellodi A., Martin R., Ramaswami U., Gucsavas-Calikoglu M., Vijayaraghavan S., Wendt S., Puga A.C., Ulbrich B., Shinawi M., Cleary M., Piper D., Conway A.M., and Kimura A. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med. 8 (2006) 465-473
-
(2006)
Genet. Med.
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
Giugliani, R.4
Harmatz, P.5
Eng, C.M.6
Vellodi, A.7
Martin, R.8
Ramaswami, U.9
Gucsavas-Calikoglu, M.10
Vijayaraghavan, S.11
Wendt, S.12
Puga, A.C.13
Ulbrich, B.14
Shinawi, M.15
Cleary, M.16
Piper, D.17
Conway, A.M.18
Kimura, A.19
-
21
-
-
0029090616
-
Standardization of spirometry. 1994 update. American Thoracic Society
-
Standardization of spirometry. 1994 update. American Thoracic Society, Am. J. Respir. Crit. Care Med. 152 (1995) 1107-1136.
-
(1995)
Am. J. Respir. Crit. Care Med
, vol.152
, pp. 1107-1136
-
-
-
22
-
-
0036644465
-
ATS statement: Guidelines for the six-minute walk test
-
ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories
-
ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories, ATS statement: guidelines for the six-minute walk test, Am. J. Respir. Crit. Care Med. 166 (2002) 111-117.
-
(2002)
Am. J. Respir. Crit. Care Med
, vol.166
, pp. 111-117
-
-
-
23
-
-
10344267591
-
Night-to-night variation of the oxygen desaturation index in sleep apnoea syndrome
-
Fietze I., Dingli K., Diefenbach K., Douglas N.J., Glos M., Tallafuss M., Terhalle W., and Witt C. Night-to-night variation of the oxygen desaturation index in sleep apnoea syndrome. Eur. Resp. J. 24 (2004) 987-993
-
(2004)
Eur. Resp. J.
, vol.24
, pp. 987-993
-
-
Fietze, I.1
Dingli, K.2
Diefenbach, K.3
Douglas, N.J.4
Glos, M.5
Tallafuss, M.6
Terhalle, W.7
Witt, C.8
-
24
-
-
0031761535
-
Reference equations for the six-minute walk in healthy adults
-
Enright P.L., and Sherrill D.L. Reference equations for the six-minute walk in healthy adults. Am. J. Respir. Crit. Care Med. 158 (1998) 1384-1387
-
(1998)
Am. J. Respir. Crit. Care Med.
, vol.158
, pp. 1384-1387
-
-
Enright, P.L.1
Sherrill, D.L.2
-
25
-
-
0030935041
-
Interpreting small differences in functional status: the Six Minute Walk test in chronic lung disease patients
-
Redelmeier D.A., Bayoumi A.M., Goldstein R.S., and Guyatt G.H. Interpreting small differences in functional status: the Six Minute Walk test in chronic lung disease patients. Am. J. Respir. Crit. Care Med. 155 (1997) 1278-1282
-
(1997)
Am. J. Respir. Crit. Care Med.
, vol.155
, pp. 1278-1282
-
-
Redelmeier, D.A.1
Bayoumi, A.M.2
Goldstein, R.S.3
Guyatt, G.H.4
-
26
-
-
0026038935
-
-
Lung function testing: selection of reference values and interpretative strategies. American Thoracic Society, Am. J. Rev. Respir. Dis. 144 (1991) 1202-1218. .
-
Lung function testing: selection of reference values and interpretative strategies. American Thoracic Society, Am. J. Rev. Respir. Dis. 144 (1991) 1202-1218. .
-
-
-
-
27
-
-
0033506642
-
Reliability and limitations of echocardiographic measurement of left ventricular mass for risk stratification and follow-up in single patients: the RES trial
-
de Simone G., Muiesan M.L., Ganau A., Longhini C., Verdecchia P., Palmieri V., Agabiti-Rosei E., and Mancia G. Reliability and limitations of echocardiographic measurement of left ventricular mass for risk stratification and follow-up in single patients: the RES trial. J. Hypertens. 17 (1999) 1955-1963
-
(1999)
J. Hypertens.
, vol.17
, pp. 1955-1963
-
-
de Simone, G.1
Muiesan, M.L.2
Ganau, A.3
Longhini, C.4
Verdecchia, P.5
Palmieri, V.6
Agabiti-Rosei, E.7
Mancia, G.8
-
28
-
-
39149118050
-
-
J.E. Wraith, M.Scarpa, M. Beck, O.A. Bodamer, L. De Meirleir, N. Guffon, A.M. Lund, G. Malm, A.T. Van der Ploeg, J. Zeman, Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy, Eur. J. Pediatr. 167 (2008) 267-277 (Epub 2007 Nov 23).
-
J.E. Wraith, M.Scarpa, M. Beck, O.A. Bodamer, L. De Meirleir, N. Guffon, A.M. Lund, G. Malm, A.T. Van der Ploeg, J. Zeman, Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy, Eur. J. Pediatr. 167 (2008) 267-277 (Epub 2007 Nov 23).
-
-
-
-
29
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase)
-
Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Swiedler S.J., Kakkis E.D., Braakman T., Chadbourne E., Walton-Bowen K., and Cox G.F. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase). J. Pediatr. 144 (2004) 581-588
-
(2004)
J. Pediatr.
, vol.144
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
Rapoport, D.M.7
Berger, K.I.8
Swiedler, S.J.9
Kakkis, E.D.10
Braakman, T.11
Chadbourne, E.12
Walton-Bowen, K.13
Cox, G.F.14
-
30
-
-
59449083175
-
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
-
Clarke L.A., Wraith J.E., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Sidman M., Kakkis E.D., and Cox G.F. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 123 (2009) 229-240
-
(2009)
Pediatrics
, vol.123
, pp. 229-240
-
-
Clarke, L.A.1
Wraith, J.E.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
Rapoport, D.M.7
Berger, K.I.8
Sidman, M.9
Kakkis, E.D.10
Cox, G.F.11
-
31
-
-
33744978567
-
S.J. Swiedler; 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., and Kakkis E. S.J. Swiedler; 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. 148 (2006) 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
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