Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Scarpa, Maurizio ^a   Almássy, Zsuzsanna ^b   Beck, Michael ^c   Bodamer, Olaf ^d   Bruce, Iain A ^e   De Meirleir, Linda ^f   Guffon, Nathalie ^g   Guillén Navarro, Encarna ^h   Hensman, Pauline ^e   Jones, Simon ⁱ   Kamin, Wolfgang ^c,j   Kampmann, Christoph ^k   Lampe, Christina ^c   Lavery, Christine A ^l   Leão Teles, Elisa ^m   Link, Bianca ⁿ   Lund, Allan M ^o   Malm, Gunilla ^p   Pitz, Susanne ^c   Rothera, Michael ^e   Stewart, Catherine ^q   Tylki Szymaska, Anna ^r   Van Der Ploeg, Ans ^s   Walker, Robert ^e   Zeman, Jiri ^t   Wraith, James E ⁱ   more..

^a UNIVERSITY OF PADOVA   (Italy)

^b HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^e ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^g HFME   (France)

^h HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j Klinik für Kinder und Jugendmedizin Am Evangelischen Krankenhaus Hamm   (Germany)

^k UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^l Society for Mucopolysaccharide Diseases   (United Kingdom)

^m HOSPITAL DE SÃO JOÃO   (Portugal)

ⁿ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^o Rigshospitalet   (Denmark)

^p KAROLINSKA INSTITUTE   (Sweden)

^q BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^r CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^s ERASMUS MEDICAL CENTER   (Netherlands)

^t CHARLES UNIVERSITY   (Czech Republic)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE;

ALGORITHM; ANESTHESIST; CARDIOLOGIST; DISEASE COURSE; ENZYME REPLACEMENT; EUROPE; HOME CARE; HUMAN; HUNTER SYNDROME; MEDICAL SPECIALIST; OCCUPATIONAL THERAPIST; ONSET AGE; PATIENT CARE; PEDIATRICIAN; PHYSIOTHERAPIST; PSYCHOLOGIST; RARE DISEASE; REVIEW; SOCIAL WORKER; STEM CELL TRANSPLANTATION; SURGEON; SYMPTOMATOLOGY; TREATMENT PLANNING; ADOLESCENT; ADULT; ARTICLE; CLINICAL TRIAL (TOPIC); DISEASE MANAGEMENT; FEMALE; GENETICS; MALE; PATHOLOGY; PRACTICE GUIDELINE; TREATMENT OUTCOME;

ADOLESCENT; ADULT; CLINICAL TRIALS AS TOPIC; DISEASE MANAGEMENT; ENZYME REPLACEMENT THERAPY; FEMALE; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; RARE DISEASES; TREATMENT OUTCOME;

EID: 80355132630     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-72     Document Type: Review

References (129)

1. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Bach G, Eisenberg F Jr, Cantz M, Neufeld EF, Proc Natl Acad Sci USA 1973 70 7 2134 2138 10.1073/pnas.70.7.2134 4269173
2. The mucopolysaccharidoses. Neufeld EF, Muenzer J, The metabolic and molecular bases of inherited disease New York: McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 2001 3421 3452
3. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, van der Ploeg AT, Zeman J, Eur J Pediatr 2008 167 3 267 277 10.1007/s00431-007-0635-4 18038146
4. Cumulative incidence rates of the mucopolysaccharidoses in Germany. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M, J Inherit Metab Dis 2005 28 6 1011 1017 10.1007/s10545-005-0112-z 16435194 (Pubitemid 43168938)
5. The frequency of lysosomal storage diseases in The Netherlands. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP, Hum Genet 1999 105 1-2 151 156 10.1007/s004399900075 10480370 (Pubitemid 29396979)
6. Incidence of the mucopolysaccharidoses in Northern Ireland. Nelson J, Hum Genet 1997 101 3 355 358 10.1007/s004390050641 9439667 (Pubitemid 28197533)
7. Mucopolysaccharidosis type II in females: case report and review of literature. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA, Pediatr Neurol 2005 32 4 270 272 10.1016/j.pediatrneurol.2004.10.009 15797184 (Pubitemid 40410650)
8. Brother/sister siblings affected with Hunter disease: evidence for skewed × chromosome inactivation. Sukegawa K, Matsuzaki T, Fukuda S, Masuno M, Fukao T, Kokuryu M, Iwata S, Tomatsu S, Orii T, Kondo N, Clin Genet 1998 53 2 96 101 9611068 (Pubitemid 28188209)
9. MPS II in females: molecular basis of two different cases. Cudry S, Tigaud I, Froissart R, Bonnet V, Maire I, Bozon D, J Med Genet 2000 37 10 29 10.1136/jmg.37.10.e29 11015461
10. Female Hunter syndrome caused by a single mutation and familial XCI skewing: implication for other X-linked disorders. Kloska A, Jakábkiewicz-Banecka J, Tylki-Szymanska A, Czartoryska B, Wergrzyn G, Clin Genet 2010
11. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Munoz V, Muenzer J, Pediatrics 2008 121 2 377 386 10.1542/peds.2007-1350 18245410 (Pubitemid 351198459)
12. A clinical study of 77 patients with mucopolysaccharidosis type II. Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, et al. Acta Paediatr 2007 96 Suppl 455 63 70 (Pubitemid 46481122)
13. Mortality and cause of death in mucopolysaccharidosis type II: a historical review based on data from the Hunter Outcome Survey (HOS). Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, et al. J Inherit Metab Dis 2009 32 4 534 543 10.1007/s10545-009-1119-7 19597960
14. Initial report from the Hunter Outcome Survey. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, Genet Med 2008 10 7 508 516 10.1097/GIM.0b013e31817701e6 18580692
15. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Chamoles NA, Blanco MB, Gaggioli D, Casentini C, Clin Chem 2001 47 12 2098 2102 11719472 (Pubitemid 33108873)
16. Mucopolysaccharidosis type II. Martin R, Gene Reviews 1993 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter
17. Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Altarescu G, Renbaum P, Eldar-Geva T, Brooks B, Varshaver I, Avitzour M, Margalioth EJ, Levy-Lahad E, Elstein D, Epsztejn-Litman S, et al. Prenat Diagn 2011
18. Mucopolysaccharidosis type II. Scarpa M, Gene Reviews 2011 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter
19. Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Keulemans JL, Sinigerska I, Garritsen VH, Huijmans JG, Voznyi YV, van Diggelen OP, Kleijer WJ, Prenat Diagn 2002 22 11 1016 1021 10.1002/pd.457 12424767 (Pubitemid 35407835)
20. Prenatal diagnosis of Hunter syndrome. Archer IM, Kingston HM, Harper PS, Prenat Diagn 1984 4 3 195 200 10.1002/pd.1970040306 6431402 (Pubitemid 14073072)
21. Hunter syndrome in an 11-year-old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. Manara R, Rampazzo A, Cananzi M, Salviati L, Mardari R, Drigo P, Tomanin R, Gasparotto N, Priante E, Scarpa M, J Inherit Metab Dis 2010
22. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the × chromosome carrying the normal allele. Sukegawa K, Song XQ, Masuno M, Fukao T, Shimozawa N, Fukuda S, Isogai K, Nishio H, Matsuo M, Tomatsu S, et al. Hum Mutat 1997 10 5 361 367 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I 9375851 (Pubitemid 27473296)
23. Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the × chromosomes in a karyotypically normal girl. Clarke JT, Greer WL, Strasberg PM, Pearce RD, Skomorowski MA, Ray PN, Am J Hum Genet 1991 49 2 289 297 1678247 (Pubitemid 21891674)
24. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M, Arch Dis Child 1983 58 11 911 915 10.1136/adc.58.11.911 6418082 (Pubitemid 14240961)
25. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GT, Clin Genet 1986 30 5 392 398 3100113 (Pubitemid 17200187)
26. Heparin cofactor II-thrombin complex: a biomarker of MPS disease. Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, et al. Mol Genet Metab 2008 94 4 456 461 10.1016/j.ymgme.2008.05.001 18511319
27. 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 KJ, Mercer J, Petty J, Tylee K, Church H, Roberts J, Moss G, Jones S, Wynn R, Wraith JE, et al. J Inherit Metab Dis 2011 34 2 499 508 10.1007/s10545-010-9254-8 21170681
28. Functional outcome in osteogenesis imperfecta: disability profiles using the PEDI. Engelbert RHH, Custers JWH, van der Net J, van der Graaf Y, Beemer FA, Helders PJM, Pediatr Phys Ther 1997 9 18 22 (Pubitemid 27100526)
29. The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity, and sensitivity to change. Pediatric Outcomes Instrument Development Group. Pediatric Orthopaedic Society of North America. Daltroy LH, Liang MH, Fossel AH, Goldberg MJ, J Pediatr Orthop 1998 18 5 561 571 9746401
30. Evaluation of disease severity in mucopolysaccharidoses. Beck M, Muenzer J, Scarpa M, J Pediatr Rehab Med 2010 3 1 39 46
31. Long-term follow-up following bone marrow transplantation for Hunter disease. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE, J Inherit Metab Dis 1999 22 5 638 648 10.1023/A:1005525931994 10399096 (Pubitemid 29278276)
32. Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R, J Pediatr 2009 154 5 733 737 10.1016/j.jpeds.2008.11.041 19167723
33. A Phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A, Mol Genet Metab 2007 90 3 329 337 10.1016/j.ymgme.2006.09.001 17185020 (Pubitemid 46241902)
34. A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, et al. Genet Med 2006 8 8 465 473 10.1097/01.gim. 0000232477.37660.fb 16912578
35. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Muenzer J, Beck M, Eng C, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Cleary M, et al. Genet Med 2011 13 2 95 101 10.1097/GIM.0b013e3181fea459 21150784
36. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T, Mol Genet Metab 2010 99 1 18 25 10.1016/j.ymgme.2009.08.006 19773189
37. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. Schulze-Frenking G, Jones SA, Roberts J, Beck M, Wraith JE, J Inherit Metab Dis 2011 34 1 203 208 10.1007/s10545-010-9215-2 20978944
38. Management of infusion-related reactions to enzyme replacement therapy in a cohort of patients with mucopolysaccharidosis disorders. Miebach E, Int J Clin Pharmacol Ther 2009 47 Suppl 1 100 106 20040319
39. Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses. Burton BK, Wiesman C, Paras A, Kim K, Katz R, Mol Genet Metab 2009 97 3 234 236 10.1016/j.ymgme.2009.04.007 19427803
40. Intravenous enzyme replacement therapy: better in home or hospital? Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A, Br J Nurs 2006 15 6 330 333 16628169
41. Home therapy for lysosomal storage disorders. Hughes DA, Mlilligan A, Mehta A, Br J Nurs 2007 16 22 1386 1389
42. Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II-data from the Hunter Outcome Survey. Burton BK, Guffon N, Roberts J, van de Ploeg AT, Jones SA, Mol Genet Metab 2010 101 2-3 123 129 10.1016/j.ymgme.2010.06.011 20638311
43. The management of children with Hunter syndrome-a case study. Little C, Gould R, Hendriksz C, Br J Nurs 2009 18 5 321 322 19273994
44. Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith JE, J Inherit Metab Dis 2008 31 6 733 737 10.1007/s10545-008-0980-0 18923918
45. Idursulfase treatment of Hunter syndrome in children under 6 years old: results from the Hunter Outcome Survey. Muenzer J, Beck M, Giugliani R, Suzuki Y, Tylki-Szymanska A, Valayannopoulos V, Vellodi A, Wraith JE, Genet Med 2011 13 2 102 109 10.1097/GIM.0b013e318206786f 21233716
46. Guidelines for the investigation and management of mucopolysaccharidosis type II. Vellodi A, Wraith JE, Cleary MA, Ramaswami U, Lavery C, Jessop E, Department of Health National Specialist Commissioning Group (NSCAG) 2007 http://www.dh.gov.uk/prod-consum-dh/groups/dh-digitalassets/dh/en/documents/ digitalasset/dh-073340.pdf
47. Multidisciplinary management of Hunter syndrome. Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, et al. Pediatrics 2009 124 6 1228 1239 10.1542/peds.2008-0999 19901005
48. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. Aubourg P, Blanche S, Jambaque I, Rocchiccioli F, Kalifa G, Naud-Saudreau C, Rolland MO, Debre M, Chaussain JL, Griscelli C, et al. N Engl J Med 1990 322 26 1860 1866 10.1056/NEJM199006283222607 2348839 (Pubitemid 20200413)
49. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K, James DC, Lucas CF, Rogers TR, Benson PF, et al. Lancet 1981 2 8249 709 712 6116856 (Pubitemid 11061090)
50. Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation. Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, Weisdorf S, Sibley R, Snover D, McGovern MM, et al. N Engl J Med 1984 311 25 1606 1611 10.1056/NEJM198412203112504 6150438 (Pubitemid 15175201)
51. Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. Krivit W, Shapiro E, Kennedy W, Lipton M, Lockman L, Smith S, Summers CG, Wenger DA, Tsai MY, Ramsay NK, et al. N Engl J Med 1990 322 1 28 32 10.1056/NEJM199001043220106 1967188 (Pubitemid 20023830)
52. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. Krivit W, Shapiro EG, Peters C, Wagner JE, Cornu G, Kurtzberg J, Wenger DA, Kolodny EH, Vanier MT, Loes DJ, et al. N Engl J Med 1998 338 16 1119 1126 10.1056/NEJM199804163381605 9545360 (Pubitemid 28227482)
53. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Peters C, Balthazor M, Shapiro EG, King RJ, Kollman C, Hegland JD, Henslee-Downey J, Trigg ME, Cowan MJ, Sanders J, et al. Blood 1996 87 11 4894 4902 8639864 (Pubitemid 26162394)
54. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, Saunders EF, deAlarcon PA, Twist C, Nachman JB, et al. Blood 1998 91 7 2601 2608 9516162 (Pubitemid 28155537)
55. Targeting gene-modified hematopoietic cells to the central nervous system: use of green fluorescent protein uncovers microglial engraftment. Priller J, Flugel A, Wehner T, Boentert M, Haas CA, Prinz M, Fernandez-Klett F, Prass K, Bechmann I, de Boer BA, et al. Nat Med 2001 7 12 1356 1361 10.1038/nm1201-1356 11726978 (Pubitemid 34007942)
56. Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia. Mullen CA, Thompson JN, Richard LA, Chan KW, Bone Marrow Transplant 2000 25 10 1093 1097 10.1038/sj.bmt.1702397 10828871
57. Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Young ID, Harper PS, Arch Dis Child 1982 57 11 828 836 10.1136/adc.57.11.828 6816147 (Pubitemid 13238787)
58. Long-term follow-up of a patient transplanted for Hunter's disease type IIB: a case report and literature review. Bergstrom SK, Quinn JJ, Greenstein R, Ascensao J, Bone Marrow Transplant 1994 14 4 653 658 7858546 (Pubitemid 24338498)
59. Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): two-year follow-up of the first Italian patient and review of the literature. Coppa GV, Gabrielli O, Zampini L, Pierani P, Giorgi PL, Jezequel AM, Orlandi F, Miniero R, Busca A, De Luca T, et al. Pediatr Med Chir 1995 17 3 227 235 7567644
60. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Hoogerbrugge PM, Brouwer OF, Bordigoni P, Ringden O, Kapaun P, Ortega JJ, O'Meara A, Cornu G, Souillet G, Frappaz D, et al. Lancet 1995 345 8962 1398 1402 10.1016/S0140-6736(95)92597-X 7760610
61. Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases. Imaizumi M, Gushi K, Kurobane I, Inoue S, Suzuki J, Koizumi Y, Suzuki H, Sato A, Gotoh Y, Haginoya K, et al. Acta Paediatr Jpn 1994 36 1 30 36 8165905 (Pubitemid 24067379)
62. Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation. Resnick JM, Krivit W, Snover DC, Kersey JH, Ramsay NK, Blazar BR, Whitley CB, Bone Marrow Transplant 1992 10 3 273 280 1330150
63. Bone marrow transplantation in Hunter syndrome. McKinnis EJ, Sulzbacher S, Rutledge JC, Sanders J, Scott CR, J Pediatr 1996 129 1 145 148 10.1016/S0022-3476(96)70202-0 8757575 (Pubitemid 26277259)
64. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. Wynn RF, Wraith JE, Mercer J, O'Meara A, Tylee K, Thornley M, Church HJ, Bigger BW, J Pediatr 2009 154 4 609 611 10.1016/j.jpeds.2008.11.005 19324223
65. The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome. Ito K, Ochiai T, Suzuki H, Chin M, Shichino H, Mugishima H, Br J Dermatol 2004 151 1 207 211 10.1111/j.1365-2133. 2004.05944.x 15270893 (Pubitemid 39061301)
66. Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation. Araya K, Sakai N, Mohri I, Kagitani-Shimono K, Okinaga T, Hashii Y, Ohta H, Nakamichi I, Aozasa K, Taniike M, et al. Mol Genet Metab 2009 98 3 255 263 10.1016/j.ymgme.2009.05.006 19556155
67. Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Dickson P, Int J Clin Pharmacol Ther 2009 47 Suppl 1 124 127 20040323
68. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G, Mol Ther 2009 17 6 964 971 10.1038/mt.2009.53 19293774
69. Correction of Hunter syndrome in the MPS II mouse model by AAV2/8-mediated gene delivery. Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP, Hum Mol Genet 2006 15 7 1225 1236 10.1093/hmg/ddl038 16505002
70. Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. Braun SE, Aronovich EL, Anderson RA, Crotty PL, McIvor RS, Whitley CB, Proc Natl Acad Sci USA 1993 90 24 11830 11834 10.1073/pnas.90.24.11830 8265633 (Pubitemid 24008733)
71. IDS crossing of the blood-brain barrier corrects CNS defects in MPS II mice. Polito VA, Cosma MP, Am J Hum Genet 2009 85 2 296 301 10.1016/j.ajhg.2009. 07.011 19679226
72. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Friso A, Tomanin R, Salvalaio M, Scarpa M, Br J Pharmacol 2010 159 5 1082 1091 10.1111/j.1476-5381.2009.00565.x 20136838
73. Sudden death in Hunter syndrome caused by complete atrioventricular block. Hishitani T, Wakita S, Isoda T, Katori T, Ishizawa A, Okada R, J Pediatr 2000 136 2 268 269 10.1016/S0022-3476(00)70117-X 10657841 (Pubitemid 30471006)
74. Prophylaxis against infective endocarditis. Antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures. National Institute for Health and Clinical Excellence, 2008 http://www.nice.org.uk/nicemedia/pdf/CG64NICEguidance.pdf
75. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients. Dangel JH, Eur J Pediatr 1998 157 7 534 538 10.1007/s004310050872 9686810 (Pubitemid 28311476)
76. Mitral valve replacement for mitral stenosis secondary to Hunter's syndrome. Bhattacharya K, Gibson SC, Pathi VL, Ann Thorac Surg 2005 80 5 1911 1912 10.1016/j.athoracsur.2004.06.021 16242483 (Pubitemid 41464329)
77. Hydrocephalus in Hunter Syndrome. van Aerde J, Plets C, Van der Hauwaert L, Acta Paediatr Belg 1981 34 2 93 96 6801919 (Pubitemid 12104945)
78. Hydrocephalus and pseudotumour cerebri in the mucopolysaccharidoses. Sheridan M, Johnston I, Childs Nerv Syst 1994 10 3 148 150 10.1007/BF00301079 8044807 (Pubitemid 24154552)
79. Hunter syndrome presenting as macrocephaly and hydrocephalus. Yatziv S, Epstein CJ, J Med Genet 1977 14 6 445 447 10.1136/jmg.14.6.445 146740 (Pubitemid 8262660)
80. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. Al Sawaf S, Mayatepek E, Hoffmann B, J Inherit Metab Dis 2008 31 4 473 480 10.1007/s10545-008-0878-x 18618289
81. Cervical myelopathy secondary to Hunter syndrome in an adult. Vinchon M, Cotten A, Clarisse J, Chiki R, Christiaens JL, Am J Neuroradiol 1995 16 7 1402 1403 7484623
82. Myelopathy in mucopolysaccharidosis type II (Hunter syndrome). Ballenger CE, Swift TR, Leshner RT, El Gammal TA, McDonald TF, Ann Neurol 1980 7 4 382 385 10.1002/ana.410070418 6769383 (Pubitemid 10112836)
83. Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome). O'Brien DP, Cowie RA, Wraith JE, Childs Nerv Syst 1997 13 2 87 90 10.1007/s003810050049 9105743 (Pubitemid 27132702)
84. Hunter's syndrome as a cause of childhood carpal tunnel syndrome: a report of three cases. Norman-Taylor F, Fixsen JA, Sharrard WJ, J Pediatr Orthop B 1995 4 1 106 109 10.1097/01202412-199504010-00018 7719824
85. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. Van Heest AE, House J, Krivit W, Walker K, J Hand Surg Am 1998 23 2 236 243 10.1016/S0363-5023(98) 80120-2 9556262 (Pubitemid 29098769)
86. Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. Wraith JE, Alani SM, Arch Dis Child 1990 65 9 962 963 10.1136/adc.65.9.962 2121106 (Pubitemid 20304934)
87. Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. Haddad FS, Jones DH, Vellodi A, Kane N, Pitt MC, J Bone Joint Surg Br 1997 79 4 576 582 10.1302/0301-620X.79B4.7547 9250742 (Pubitemid 27346112)
88. Mucopolysaccharidoses and the eye. Ashworth JL, Biswas S, Wraith E, Lloyd IC, Surv Ophthalmol 2006 51 1 1 17 10.1016/j.survophthal.2005.11.007 16414358 (Pubitemid 43083370)
89. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey (HOS). Link B, de Camargo Pinto LL, Giugliani R, Wraith JE, Guffon N, Eich E, Beck M, Orthopedic Reviews 2010 2 e16 56 64
90. Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Genet Med 2010 12 12 816 822 10.1097/GIM.0b013e3181f6e74d 21045710
91. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. Polgreen LE, Miller BS, J Pediatr Rehabil Med 2010 3 1 25 38 20563263
92. Current indications for growth hormone therapy for children and adolescents. Richmond E, Rogol AD, Endocr Dev 2010 18 92 108 20523020
93. Recombinant growth hormone for children and adolescents with Turner syndrome. Baxter L, Bryant J, Cave CB, Milne R, Cochrane Database Syst Rev 2007 1 D003887
94. Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation. Takeda A, Cooper K, Bird A, Baxter L, Frampton GK, Gospodarevskaya E, Welch K, Bryant J, Health Technol Assess 2010 14 42 1 209 iii-iv 21208547
95. Orthopaedic concerns in children with growth hormone therapy. Docquier PL, Mousny M, Jouret M, Bastin C, Rombouts JJ, Acta Orthop Belg 2004 70 4 299 305 15481411 (Pubitemid 39244127)
96. Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation. Polgreen LE, Plog M, Schwender JD, Tolar J, Thomas W, Orchard PJ, Miller BS, Petryk A, Bone Marrow Transplant 2009 44 5 279 285 10.1038/bmt.2009.31 19252529
97. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP, Int J Pediatr Otorhinolaryngol 2005 69 5 589 595 10.1016/j.ijporl.2005.01.017 15850680 (Pubitemid 40585771)
98. Diagnosis and management of respiratory involvement in Hunter syndrome. Kamin W, Acta Paediatr 2008 97 Suppl 457 57 60 (Pubitemid 351421293)
99. Successful use of nasal-CPAP for obstructive sleep apnea in Hunter syndrome with diffuse airway involvement. Ginzburg AS, Onal E, Aronson RM, Schild JA, Mafee MF, Lopata M, Chest 1990 97 6 1496 1498 10.1378/chest.97.6.1496 2112082 (Pubitemid 20185711)
100. Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome). Jeong HS, Cho DY, Ahn KM, Jin DK, Int J Pediatr Otorhinolaryngol 2006 70 10 1765 1769 10.1016/j.ijporl.2006.05.021 16831472 (Pubitemid 44291448)
101. A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway. Walker RW, Allen DL, Rothera MR, Paediatr Anaesth 1997 7 5 421 426 10.1046/j.1460-9592.1997.d01-102.x 9308068 (Pubitemid 27392391)
102. The laryngeal mask airway in the difficult paediatric airway: an assessment of positioning and use in fibreoptic intubation. Walker RW, Paediatr Anaesth 2000 10 1 53 58 10.1046/j.1460-9592.2000.00425.x 10632910 (Pubitemid 30056019)
103. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Walker RW, Darowski M, Morris P, Wraith JE, Anaesthesia 1994 49 12 1078 1084 10.1111/j.1365-2044.1994.tb04360.x 7864325
104. Anaesthesia for children with mucopolysaccharidoses. Moores C, Rogers JG, McKenzie IM, Brown TC, Anaesth Intensive Care 1996 24 4 459 463 8862643 (Pubitemid 126449239)
105. Two cases of Hunter's syndrome: the anaesthetic and operative difficulties in oral surgery. Hopkins R, Watson JA, Jones JH, Walker M, Br J Oral Surg 1973 10 3 286 299 4198586
106. Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Walker RW, Colovic V, Robinson DN, Dearlove OR, Paediatr Anaesth 2003 13 5 441 447 10.1046/j.1460-9592.2003.00969.x 12791120 (Pubitemid 36774027)
107. The Society for Mucopolysaccharide Diseases. http://www.mpssociety.co.uk
108. Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective. Martin HR, Poe MD, Reinhartsen D, Pretzel RE, Roush J, Rosenberg A, Dusing SC, Escolar ML, Acta Paediatr 2008 97 Suppl 457 69 75 (Pubitemid 351421294)
109. Children with mucopolysaccharidoses: three cases report. Man TT, Tsai PS, Rau RH, Cheng CR, Ko YP, Wu KH, Acta Anaesthesiol Sin 1999 37 2 93 96 10410410
110. Persistence of upper respiratory tract infections in a cohort followed from childhood to adulthood. Rovers MM, Balemans WA, Sanders EA, van der Ent CK, Zielhuis GA, Schilder AG, Fam Pract 2006 23 3 286 290 10.1093/fampra/cml001 16517546
111. Upper respiratory morbidity in preschool children: a cross-sectional study. Kværner KJ, Nafstad P, Jaakkola JJ, Arch Otolaryngol Head Neck Surg 2000 126 10 1201 1206 11031406
112. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Young ID, Harper PS, Dev Med Child Neurol 1983 25 4 481 489 6413286 (Pubitemid 13030892)
113. Hunter's syndrome and oral manifestations: a review. Downs AT, Crisp T, Ferretti G, Pediatr Dent 1995 17 2 98 100 7603911
114. Upper airway obstruction in Hunter syndrome. Brama I, Gay I, Feinmesser R, Springer C, Int J Pediatr Otorhinolaryngol 1986 11 3 229 235 10.1016/S0165-5876(86)80034-9 3095256 (Pubitemid 16049683)
115. Airway changes in children with mucopolysaccharidoses. Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG, Acta Radiol 2002 43 1 40 43 11972460
116. Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Shapiro J, Strome M, Crocker AC, Ann Otol Rhinol Laryngol 1985 94 5 I 458 461 3931528 (Pubitemid 16251264)
117. Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery. Orliaguet O, Pepin JL, Veale D, Kelkel E, Pinel N, Levy P, Eur Respir J 1999 13 5 1195 1197 10.1034/j.1399-3003.1999.13e42.x 10414426 (Pubitemid 29288951)
118. Disordered breathing during sleep in patients with mucopolysaccharidoses. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R, Int J Pediatr Otorhinolaryngol 2001 58 2 127 138 10.1016/S0165-5876(01)00417-7 11278021 (Pubitemid 32237219)
119. Tracheobronchomalacia in Hunter's syndrome. Morehead JM, Parsons DS, Int J Pediatr Otorhinolaryngol 1993 26 3 255 261 10.1016/0165-5876(93)90096-L 8509249 (Pubitemid 23146917)
120. Pebbling of the skin: a marker of Hunter's syndrome. Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C, Pediatr Dermatol 1998 15 5 370 373 10.1046/j.1525-1470.1998.1998015370.x 9796587 (Pubitemid 28465807)
121. Lumbar kyphosis in Hunter's disease (MPS II). Benson PF, Button LR, Fensom AH, Dean MF, Clin Genet 1979 16 5 317 322 117962 (Pubitemid 10119253)
122. Carpal tunnel syndrome in children. Van Meir N, De Smet L, Acta Orthop Belg 2003 69 5 387 395 14648946 (Pubitemid 37372920)
123. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Parsons VJ, Hughes DG, Wraith JE, Clin Radiol 1996 51 10 719 723 10.1016/S0009-9260(96)80246-7 8893643 (Pubitemid 26355710)
124. Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis? Vieira T, Schwartz I, Mũoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, et al. Am J Med Genet A 2008 146A 13 1741 1747 10.1002/ajmg.a.32320 18546277 (Pubitemid 351975487)
125. Ocular manifestations of the mucopolysaccharidoses. François J, Ophthalmologica 1974 169 5 345 361 10.1159/000307137 4370235
126. Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Gills JP, Hobson R, Hanley WB, McKusick VA, Arch Ophthalmol 1965 74 5 596 603 4954407
127. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Collins ML, Traboulsi EI, Maumenee IH, Ophthalmology 1990 97 11 1445 1449 2123975 (Pubitemid 20383278)
128. Acute airway obstruction in Hunter syndrome. Yoskovitch A, Tewfik TL, Brouillette RT, Schloss MD, Der Kaloustian VM, Int J Pediatr Otorhinolaryngol 1998 44 3 273 278 10.1016/S0165-5876(98)00063-9 9780074 (Pubitemid 28417300)
129. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Linhart A, Elliott PM, Heart 2007 93 4 528 535 10.1136/hrt.2005. 063818 17401074 (Pubitemid 46631530)