TY - CHAP AU - Neufeld, E. F. AU - Muenzer, J. ED - Scriver, C. R. ED - Beaudet, A. L. ED - Sly, W. S. ED - Valle, D. ED - Childs, B. ED - Kinzler, K. W. PY - 2001 DA - 2001// TI - The Mucopolysaccharidoses BT - The Metabolic and Molecular Bases of Inherited Disease PB - McGraw-Hill CY - New York ID - Neufeld2001 ER - TY - JOUR AU - Meikle, P. J. AU - Hopwood, J. J. AU - Clague, A. E. AU - Carey, W. F. PY - 1999 DA - 1999// TI - Prevalence of lysosomal storagedisorders JO - JAMA VL - 281 UR - https://doi.org/10.1001/jama.281.3.249 DO - 10.1001/jama.281.3.249 ID - Meikle1999 ER - TY - JOUR AU - Baehner, F. AU - Schmiedeskamp, C. AU - Krummenauer, F. AU - Miebach, E. AU - Bajbouj, M. AU - Whybra, C. PY - 2005 DA - 2005// TI - Cumulative incidence rates of themucopolysaccharidoses in Germany JO - J Inherit Metab Dis VL - 28 UR - https://doi.org/10.1007/s10545-005-0112-z DO - 10.1007/s10545-005-0112-z ID - Baehner2005 ER - TY - JOUR AU - Wraith, J. E. AU - Beck, M. AU - Giugliani, R. AU - Clarke, J. AU - Martin, R. AU - Muenzer, J. PY - 2008 DA - 2008// TI - Initial report from the Hunter OutcomeSurvey JO - Genet Med VL - 10 UR - https://doi.org/10.1097/GIM.0b013e31817701e6 DO - 10.1097/GIM.0b013e31817701e6 ID - Wraith2008 ER - TY - JOUR AU - Jones, S. A. AU - Almassy, Z. AU - Beck, M. AU - Burt, K. AU - Clarke, J. T. AU - Giugliani, R. PY - 2009 DA - 2009// TI - Mortality and cause of death inmucopolysaccharidosis type II-a historical review based on data from theHunter Outcome Survey (HOS) JO - J Inherit Metab Dis VL - 32 UR - https://doi.org/10.1007/s10545-009-1119-7 DO - 10.1007/s10545-009-1119-7 ID - Jones2009 ER - TY - JOUR AU - Valayannopoulos, V. AU - Wijburg, F. A. PY - 2011 DA - 2011// TI - Therapy for the mucopolysaccharidoses JO - Rheumatology (Oxford) VL - 50 UR - https://doi.org/10.1093/rheumatology/ker396 DO - 10.1093/rheumatology/ker396 ID - Valayannopoulos2011 ER - TY - JOUR AU - Muenzer, J. AU - Wraith, J. E. AU - Beck, M. AU - Giugliani, R. AU - Harmatz, P. AU - Eng, C. M. PY - 2006 DA - 2006// TI - A phase II/III clinical study of enzyme replacementtherapy with idursulfase in mucopolysaccharidosis II (Huntersyndrome) JO - Genet Med VL - 8 UR - https://doi.org/10.1097/01.gim.0000232477.37660.fb DO - 10.1097/01.gim.0000232477.37660.fb ID - Muenzer2006 ER - TY - JOUR AU - Muenzer, J. AU - Beck, M. AU - Eng, C. M. AU - Giugliani, R. AU - Harmatz, P. AU - Martin, R. PY - 2011 DA - 2011// TI - Long-term, open-labeled extension study ofidursulfase in the treatment of Hunter syndrome JO - Genet Med VL - 13 UR - https://doi.org/10.1097/GIM.0b013e3181fea459 DO - 10.1097/GIM.0b013e3181fea459 ID - Muenzer2011 ER - TY - JOUR AU - Giugliani, R. AU - Hwu, W. L. AU - Tylki-Szymanska, A. AU - Whiteman, D. A. AU - Pano, A. PY - 2014 DA - 2014// TI - A multicenter, open-label study evaluating safetyand clinical outcomes in children (1.4-7.5 years) with Hunter syndromereceiving idursulfase enzyme replacement therapy JO - Genet Med VL - 16 UR - https://doi.org/10.1038/gim.2013.162 DO - 10.1038/gim.2013.162 ID - Giugliani2014 ER - TY - JOUR AU - Burton, B. a. r. b. a. r. a. K. AU - Jego, V. i. r. g. i. n. i. e. AU - Mikl, J. a. r. o. m. i. r. AU - Jones, S. i. m. o. n. A. PY - 2017 DA - 2017// TI - Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) JO - Journal of Inherited Metabolic Disease VL - 40 UR - https://doi.org/10.1007/s10545-017-0075-x DO - 10.1007/s10545-017-0075-x ID - Burton2017 ER - TY - JOUR AU - Wraith, J. E. AU - Clarke, L. A. AU - Beck, M. AU - Kolodny, E. H. AU - Pastores, G. M. AU - Muenzer, J. PY - 2004 DA - 2004// TI - Enzyme replacement therapy for mucopolysaccharidosisI: a randomized, double-blinded, placebo-controlled, multinational study ofrecombinant human alpha-L-iduronidase (laronidase) JO - J Pediatr VL - 144 UR - https://doi.org/10.1016/j.jpeds.2004.01.046 DO - 10.1016/j.jpeds.2004.01.046 ID - Wraith2004 ER - TY - JOUR AU - Harmatz, P. AU - Giugliani, R. AU - Schwartz, I. AU - Guffon, N. AU - Teles, E. L. AU - Miranda, M. C. PY - 2006 DA - 2006// TI - Enzyme replacement therapy for mucopolysaccharidosisVI: a phase 3, randomized, double-blind, placebo-controlled, multinationalstudy of recombinant human N-acetylgalactosamine 4-sulfatase (recombinanthuman arylsulfatase B or rhASB) and follow-on, open-label extensionstudy JO - J Pediatr VL - 148 UR - https://doi.org/10.1016/j.jpeds.2005.12.014 DO - 10.1016/j.jpeds.2005.12.014 ID - Harmatz2006 ER - TY - JOUR AU - Eng, C. M. AU - Guffon, N. AU - Wilcox, W. R. AU - Germain, D. P. AU - Lee, P. AU - Waldek, S. PY - 2001 DA - 2001// TI - Safety and efficacy of recombinant humanalpha-galactosidase A--replacement therapy in Fabry’s disease JO - N Engl J Med VL - 345 UR - https://doi.org/10.1056/NEJM200107053450102 DO - 10.1056/NEJM200107053450102 ID - Eng2001 ER - TY - JOUR AU - Schiffmann, R. AU - Kopp, J. B. AU - Austin, H. A. AU - Sabnis, S. AU - Moore, D. F. AU - Weibel, T. PY - 2001 DA - 2001// TI - Enzyme replacement therapy in Fabry disease: arandomized controlled trial JO - JAMA VL - 285 UR - https://doi.org/10.1001/jama.285.21.2743 DO - 10.1001/jama.285.21.2743 ID - Schiffmann2001 ER - TY - JOUR AU - Link, B. AU - de Camargo Pinto, L. L. AU - Giugliani, R. AU - Wraith, J. E. AU - Guffon, N. AU - Eich, E. PY - 2010 DA - 2010// TI - Orthopedic manifestations in patients withmucopolysaccharidosis type II (Hunter syndrome) enrolled in the HunterOutcome Survey JO - Orthop Rev (Pavia) VL - 2 UR - https://doi.org/10.4081/or.2010.e16 DO - 10.4081/or.2010.e16 ID - Link2010 ER - TY - JOUR AU - Burton, B. K. AU - Guffon, N. AU - Roberts, J. AU - van der Ploeg, A. T. AU - Jones, S. A. PY - 2010 DA - 2010// TI - Home treatment with intravenous enzyme replacementtherapy with idursulfase for mucopolysaccharidosis type II - data from theHunter Outcome Survey JO - Mol Genet Metab VL - 101 UR - https://doi.org/10.1016/j.ymgme.2010.06.011 DO - 10.1016/j.ymgme.2010.06.011 ID - Burton2010 ER - TY - JOUR AU - Mendelsohn, N. J. AU - Harmatz, P. AU - Bodamer, O. AU - Burton, B. K. AU - Giugliani, R. AU - Jones, S. A. PY - 2010 DA - 2010// TI - Importance of surgical history in diagnosingmucopolysaccharidosis type II (Hunter syndrome): data from the HunterOutcome Survey JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181f6e74d DO - 10.1097/GIM.0b013e3181f6e74d ID - Mendelsohn2010 ER - TY - JOUR AU - Muenzer, J. AU - Beck, M. AU - Giugliani, R. AU - Suzuki, Y. AU - Tylki-Szymanska, A. AU - Valayannopoulos, V. PY - 2011 DA - 2011// TI - Idursulfase treatment of Hunter syndrome in childrenyounger than 6 years: results from the Hunter Outcome Survey JO - Genet Med VL - 13 UR - https://doi.org/10.1097/GIM.0b013e318206786f DO - 10.1097/GIM.0b013e318206786f ID - Muenzer2011 ER - TY - JOUR AU - Burton, B. K. AU - Whiteman, D. A. PY - 2011 DA - 2011// TI - Incidence and timing of infusion-related reactionsin patients with mucopolysaccharidosis type II (Hunter syndrome) onidursulfase therapy in the real-world setting: a perspective from the HunterOutcome Survey (HOS) JO - Mol Genet Metab VL - 103 UR - https://doi.org/10.1016/j.ymgme.2011.02.018 DO - 10.1016/j.ymgme.2011.02.018 ID - Burton2011 ER - TY - JOUR AU - Kampmann, C. AU - Beck, M. AU - Morin, I. AU - Loehr, J. P. PY - 2011 DA - 2011// TI - Prevalence and characterization of cardiacinvolvement in Hunter syndrome JO - J Pediatr VL - 159 UR - https://doi.org/10.1016/j.jpeds.2011.01.054 DO - 10.1016/j.jpeds.2011.01.054 ID - Kampmann2011 ER - TY - JOUR AU - Keilmann, A. AU - Nakarat, T. AU - Bruce, I. A. AU - Molter, D. AU - Malm, G. PY - 2012 DA - 2012// TI - Hearing loss in patients with mucopolysaccharidosisII: data from HOS - the Hunter Outcome Survey JO - J Inherit Metab Dis VL - 35 UR - https://doi.org/10.1007/s10545-011-9378-5 DO - 10.1007/s10545-011-9378-5 ID - Keilmann2012 ER - TY - JOUR AU - Jones, S. A. AU - Parini, R. AU - Harmatz, P. AU - Giugliani, R. AU - Fang, J. AU - Mendelsohn, N. J. PY - 2013 DA - 2013// TI - The effect of idursulfase on growth in patients withHunter syndrome: Data from the Hunter Outcome Survey (HOS) JO - Mol Genet Metab VL - 109 UR - https://doi.org/10.1016/j.ymgme.2013.03.001 DO - 10.1016/j.ymgme.2013.03.001 ID - Jones2013 ER - TY - JOUR AU - Muenzer, J. AU - Jones, S. A. AU - Tylki-Szymanska, A. AU - Harmatz, P. AU - Mendelsohn, N. J. AU - Guffon, N. PY - 2017 DA - 2017// TI - Ten years of the Hunter Outcome Survey (HOS):insights, achievements, and lessons learned from a global patientregistry JO - Orphanet J Rare Dis VL - 12 UR - https://doi.org/10.1186/s13023-017-0635-z DO - 10.1186/s13023-017-0635-z ID - Muenzer2017 ER - TY - BOOK PY - 2000 DA - 2000// TI - Diagnostic and statistical manual of mental disorders :DSM-IV-TR PB - American Psychiatric Association CY - Washington, DC ID - ref24 ER - TY - JOUR AU - Tomanin, R. AU - Zanetti, A. AU - D'Avanzo, F. AU - Rampazzo, A. AU - Gasparotto, N. AU - Parini, R. PY - 2014 DA - 2014// TI - Clinical efficacy of enzyme replacement therapy inpaediatric Hunter patients, an independent study of 3.5 years JO - Orphanet J Rare Dis VL - 9 UR - https://doi.org/10.1186/s13023-014-0129-1 DO - 10.1186/s13023-014-0129-1 ID - Tomanin2014 ER - TY - JOUR AU - Parini, R. AU - Rigoldi, M. AU - Tedesco, L. AU - Boffi, L. AU - Brambilla, A. AU - Bertoletti, S. PY - 2015 DA - 2015// TI - Enzymatic replacement therapy for Hunter disease: Upto 9 years experience with 17 patients JO - Mol Genet Metab Rep VL - 3 UR - https://doi.org/10.1016/j.ymgmr.2015.03.011 DO - 10.1016/j.ymgmr.2015.03.011 ID - Parini2015 ER - TY - JOUR AU - Devereux, R. B. PY - 1987 DA - 1987// TI - Detection of left ventricular hypertrophy by M-modeechocardiography. Anatomic validation, standardization, and comparison toother methods JO - Hypertension VL - 9 ID - Devereux1987 ER - TY - STD TI - Wolf DC. Evaluation of the Size, Shape, and Consistency of theLiver. In: Walker HK, Hall WD, Hurst JW, editors. Clinical Methods: The History,Physical, and Laboratory Examinations. 3rd ed. Boston: Butterworth;1990. ID - ref28 ER - TY - JOUR AU - Geiger, R. AU - Strasak, A. AU - Treml, B. AU - Gasser, K. AU - Kleinsasser, A. AU - Fischer, V. PY - 2007 DA - 2007// TI - Six-minute walk test in children andadolescents JO - J Pediatr VL - 150 ID - Geiger2007 ER - TY - JOUR AU - Muenzer, J. AU - Gucsavas-Calikoglu, M. AU - McCandless, S. E. AU - Schuetz, T. J. AU - Kimura, A. PY - 2007 DA - 2007// TI - A phase I/II clinical trial of enzyme replacementtherapy in mucopolysaccharidosis II (Hunter syndrome) JO - Mol Genet Metab VL - 90 UR - https://doi.org/10.1016/j.ymgme.2006.09.001 DO - 10.1016/j.ymgme.2006.09.001 ID - Muenzer2007 ER - TY - JOUR AU - Tylki-Szymanska, A. AU - Jurecka, A. AU - Zuber, Z. AU - Rozdzynska, A. AU - Marucha, J. AU - Czartoryska, B. PY - 2012 DA - 2012// TI - Enzyme replacement therapy for mucopolysaccharidosisII from 3 months of age: a 3-year follow-up JO - Acta Paediatr VL - 101 UR - https://doi.org/10.1111/j.1651-2227.2011.02385.x DO - 10.1111/j.1651-2227.2011.02385.x ID - Tylki-Szymanska2012 ER - TY - JOUR AU - Dalmau Serra, J. AU - Vitoria Minana, I. AU - Calderon Fernandez, R. AU - Cortell, A. I. PY - 2015 DA - 2015// TI - Clinical response to long term enzyme replacementtreatment in children, adolescent and adult patients with Huntersyndrome JO - Med Clin (Barc) VL - 145 UR - https://doi.org/10.1016/j.medcli.2015.06.015 DO - 10.1016/j.medcli.2015.06.015 ID - Dalmau Serra2015 ER - TY - JOUR AU - Guffon, N. AU - Heron, B. AU - Chabrol, B. AU - Feillet, F. AU - Montauban, V. AU - Valayannopoulos, V. PY - 2015 DA - 2015// TI - Diagnosis, quality of life, and treatment ofpatients with Hunter syndrome in the French healthcare system: aretrospective observational study JO - Orphanet J Rare Dis VL - 10 UR - https://doi.org/10.1186/s13023-015-0259-0 DO - 10.1186/s13023-015-0259-0 ID - Guffon2015 ER - TY - JOUR AU - Okuyama, T. AU - Tanaka, A. AU - Suzuki, Y. AU - Ida, H. AU - Tanaka, T. AU - Cox, G. F. PY - 2010 DA - 2010// TI - Japan Elaprase Treatment (JET) study: idursulfaseenzyme replacement therapy in adult patients with attenuated Hunter syndrome(Mucopolysaccharidosis II, MPS II) JO - Mol Genet Metab VL - 99 UR - https://doi.org/10.1016/j.ymgme.2009.08.006 DO - 10.1016/j.ymgme.2009.08.006 ID - Okuyama2010 ER - TY - STD TI - Gibson GJ. Clinical Tests of Respiratory Function 3rd Edition ed.Boca Raton: CRC Press; 2008. ID - ref35 ER - TY - JOUR AU - Giugliani, R. AU - Dutra-Filho, C. AU - Barth, M. AU - Enk, V. AU - Netto, C. PY - 1990 DA - 1990// TI - Age-related concetrations of glycosaminoglycans inrandom urine: a contribution to the laboratorial detection ofmucopolysaccharidoses JO - Rev Brasil Genet VL - 13 ID - Giugliani1990 ER - TY - JOUR AU - Braunlin, E. A. AU - Harmatz, P. R. AU - Scarpa, M. AU - Furlanetto, B. AU - Kampmann, C. AU - Loehr, J. P. PY - 2011 DA - 2011// TI - Cardiac disease in patients withmucopolysaccharidosis: presentation, diagnosis and management JO - J Inherit Metab Dis VL - 34 UR - https://doi.org/10.1007/s10545-011-9359-8 DO - 10.1007/s10545-011-9359-8 ID - Braunlin2011 ER - TY - JOUR AU - Amatya, P. AU - Shah, D. AU - Gupta, N. AU - Bhatta, N. K. PY - 2014 DA - 2014// TI - Clinical and ultrasonographic measurement of liversize in normal children JO - Indian J Pediatr VL - 81 UR - https://doi.org/10.1007/s12098-013-1288-0 DO - 10.1007/s12098-013-1288-0 ID - Amatya2014 ER - TY - JOUR AU - Muenzer, J. AU - Beck, M. AU - Eng, C. M. AU - Escolar, M. L. AU - Giugliani, R. AU - Guffon, N. H. PY - 2009 DA - 2009// TI - Multidisciplinary management of Huntersyndrome JO - Pediatrics VL - 124 UR - https://doi.org/10.1542/peds.2008-0999 DO - 10.1542/peds.2008-0999 ID - Muenzer2009 ER - TY - JOUR AU - Barbier, A. J. AU - Bielefeld, B. AU - Whiteman, D. A. AU - Natarajan, M. AU - Pano, A. AU - Amato, D. A. PY - 2013 DA - 2013// TI - The relationship between anti-idursulfase antibodystatus and safety and efficacy outcomes in attenuated mucopolysaccharidosisII patients aged 5 years and older treated with intravenousidursulfase JO - Mol Genet Metab VL - 110 UR - https://doi.org/10.1016/j.ymgme.2013.08.002 DO - 10.1016/j.ymgme.2013.08.002 ID - Barbier2013 ER - TY - JOUR AU - Muenzer, J. PY - 2014 DA - 2014// TI - Early initiation of enzyme replacement therapy forthe mucopolysaccharidoses JO - Mol Genet Metab VL - 111 UR - https://doi.org/10.1016/j.ymgme.2013.11.015 DO - 10.1016/j.ymgme.2013.11.015 ID - Muenzer2014 ER - TY - JOUR AU - Sestito, S. AU - Ceravolo, F. AU - Grisolia, M. AU - Pascale, E. AU - Pensabene, L. AU - Concolino, D. PY - 2015 DA - 2015// TI - Profile of idursulfase for the treatment of Huntersyndrome JO - Res Rep Endocr Disord VL - 5 ID - Sestito2015 ER -