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„MPS-Patienten haben eine komplizierte Multiorganerkrankung und müssen mittels sorgfältig geplanter Verfahren durch ein multidisziplinäres Expertenteam überwacht werden.“ – Dr. Rossella Parini

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BEHANDLUNGSLEITLINIEN

MPS-spezifisch

MPS I

  • Arn P, Whitley C, Wraith JE, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012;47(3):477–484. doi:10.1016/j.jpedsurg.2011.09.042. PubMed PMID: 22424341
  • Beck M, Arn P, Giugliani R, et al. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014;16(10):759–765. doi:10.1038/gim.2014.25. PubMed Central PMCID: PMC4189384
  • Cox-Brinkman J, Timmermans RG, Wijburg FA, et al. Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe. J Inherit Metab Dis. 2007;30(6):984. PubMed PMID: 17879143
  • de Ru MH, Boelens JJ, Das AM, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011;10;6:55. doi:10.1186/1750-1172-6-55. PubMed PMID: 21831279
  • Felice T, Murphy E, Mullen MJ, Elliott PM. Management of aortic stenosis in mucopolysaccharidosis type I. Int J Cardiol. 2014 Apr 1;172(3):e430-e431. doi:10.1016/j.ijcard.2013.12.233. PubMed PMID: 24502875
  • Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633-1644. doi:10.2147/OPTH.S78368. PubMed PMID: 26379420
  • Giugliani R, Federhen A, Muñoz Rojas MV, et al. [Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. Rev Assoc Med Bras. 2010;56(3):271-277. PubMed PMID: 20676532
  • Langereis EJ, Borgo A, Crushell E, et al. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis. 2013;8:155. doi:10.1186/1750-1172-8-155. PubMed PMID: 24088413
  • Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi:10.1542/peds.2008-0416. PubMed PMID: 19117856
  • Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab. 2007;91(1):37–47. PubMed PMID: 17336562
  • Shapiro EG, Nestrasil I, Rudser K, et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015;116(1–2):61–68. doi:10.1016/j.ymgme.2015.06.002. PubMed PMID: 26095521

MPS II

  • Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012;171(4):631–639. doi: 10.1007/s00431-012-1703-y. PubMed PMID: 22383073
  • Giugliani R, Federhen A, Muñoz Rojas MV, et al. [Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. Rev Assoc Med Bras. 2010;56(3):271–277. PubMed PMID: 20676532
  • Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol. 2010;33(4):589–604. PubMed PMID: 21637564
  • Giugliani R, Villarreal ML, Valdez CA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genet Mol Biol. 2014;37(2):315–329. PubMed PMID: 25071396
  • Guillén-Navarro E, Blasco AJ, Gutierrez-Solana LG, et al. [Clinical practice guideline for the management of Hunter syndrome. Hunter España working group]. Med Clin (Barc). 2013;141(10):453.e1–e13. doi:10.1016/j.medcli.2013.07.010. PubMed PMID: 24060500
  • Jones SA, Almássy Z, Beck M, et al. Mortality and cause of death in mucopolysaccharidosis type II: a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2009;32(4):534–543. doi:10.1007/s10545-009-1119-7. PubMed PMID: 19597960
  • Lampe C, Bosserhoff AK, Burton BK, et al. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. J Inherit Metab Dis. 2014;37(5):823–829. doi:10.1007/s10545-014-9686-7. PubMed PMID: 24596019
  • Malik V, Nichani J, Rothera MP, et al. Tracheostomy in mucopolysaccharidosis type II (Hunter’s Syndrome). Int J Pediatr Otorhinolaryngol. 2013;77(7):1204-1208. doi:10.1016/j.ijporl.2013.05.002. PubMed PMID: 23726952
  • Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239. doi:10.1542/peds.2008-0999. PubMed PMID: 19901005
  • Muenzer J, Bodamer O, Burton B, et al. The role of enzyme replacement therapy in severe Hunter syndrome: an expert panel consensus. Eur J Pediatr. 2012;171(1):181–188. doi:10.1007/s00431-011-1606-3. PubMed PMID: 22037758
  • Scarpa M, Almássy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011;6:72. doi:10.1186/1750-1172-6-72. PubMed PMID: 22059643
  • Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008;167(3):267–277. PubMed PMID: 18038146
  • Yund B, Rudser K, Ahmed A, et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab. 2015;114(2):170–177. doi:10.1016/j.ymgme.2014.12.299. PubMed PMID: 25541100

MPS III

  • Delaney KA, Rudser KR, Yund BD, et al. Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 2014;13:129–137. doi:10.1007/8904_2013_269. PubMed PMID: 24190801
  • de Ruijter J, Broere L, Mulder MF, et al. Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis. 2014 May;37(3):447–454. doi:10.1007/s10545-013-9658-3. PubMed PMID: 24173409

MPS IVA/Morquio A

  • Aslam R, van Bommel AC, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59–65. doi:10.1007/8904_2012_179. PubMed PMID: 23430548
  • Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
  • Chaudhuri S, Duggappa AK, Mathew S, Venkatesh S. Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist. J Anaesthesiol Clin Pharmacol. 2013;29(2):258-261. doi:10.4103/0970-9185.111666. PubMed PMID: 23878456
  • Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
  • Harmatz PR, Mengel KE, Giugliani R, et al. Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. Mol Genet Metab. 2015;114(2):186–194. doi:10.1016/j.ymgme.2014.10.015. PubMed PMID: 25582974
  • Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54–61. doi:10.1016/j.ymgme.2013.01.021. PubMed PMID: 23452954
  • Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309-322. doi:10.1007/s10545-012-9459-0. PubMed PMID: 22358740
  • Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A(1):11–25. PubMed PMID: 25346323
  • Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37(6):979–990. doi:10.1007/s10545-014-9715-6. PubMed PMID: 24810369
  • Hendriksz CJ, Giugliani R, Harmatz P, et al. Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114(2):178–185. PubMed PMID: 25284089
  • Hendriksz CJ, Lavery C, Coker M, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32. doi:10.1186/1750-1172-9-32. PubMed PMID: 24602160
  • Montaño AM, Tomatsu S, Brusius A, et al. Growth charts for patients affected with Morquio A disease. Am J Med Genet A. 2008;146A(10):1286–1295. doi:10.1002/ajmg.a.32281. PubMed PMID: 18412124
  • Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339–355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
  • Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22(9):901–907. doi:10.1111/j.1460-9592.2012.03904.x. PubMed PMID: 22738181
  • Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096-7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
  • Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211–219. doi:10.1007/s10545-012-9563-1. PubMed PMID: 23197104
  • White KK, Jester A, Bache CE, et al. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8(4):295–304. doi:10.1007/s11832-014-0601-4. PubMed PMID: 25001525
  • Wood TC, Harvey K, Beck M, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36(2):293–307. doi:10.1007/s10545-013-9587-1. PubMed PMID: 23371450

MPS VI

  • Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
  • Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management J Inherit Metab Dis. 2011;34(6):1183–1197. doi:10.1007/s10545-011-9359-8. PubMed PMID 21744090
  • Decker C, Yu ZF, Giugliani R, Schwartz IV, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3(2):89–100. PubMed PMID: 20634905
  • Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90(7):595–602. doi:10.1111/j.1755-3768.2011.02280.x. PubMed PMID: 22136369
  • Furujo M, Kubo T, Kosuga M, Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab. 2011;104(4):597–602. doi:10.1016/j.ymgme.2011.08.029. PubMed PMID: 21930407
  • Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405–418. doi:10.1542/peds.2006–2184. PubMed PMID: 17671068
  • Harmatz P, Giugliani R, Schwartz IVD, et al; for MPS VI Study Group. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab. 2008;94(4):469–475. doi:10.1016/j.ymgme.2008.04.001. PubMed PMID: 18502162
  • Harmatz P, Giugliani R, Schwartz I, et al; for 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(4):533–539. doi:10.1016/j.jpeds.2005.12.014. PubMed PMID: 16647419
  • Harmatz P, Shediac R. Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed). 2016;21(8):1502–1515. doi:10.2741/13097.
  • Harmatz P, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis. 2010;33(1):51–60. doi:10.1007/s10545-009-9007-8. PubMed PMID: 20140523
  • McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age—a sibling control study. Clin Genet. 2010;77(5):492–498. doi:10.1111/j.1399-0004.2009.01324.x. PubMed PMID: 19968667
  • Quartel A, Hendriksz CJ, Parini R, Graham S, Lin P, Harmatz P. Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome). JIMD Rep. 2015;18:1–11. doi:10.1007/8904_2014_333. PubMed PMID: 25518809
  • Sohn BS, Park SW, Kim S, et al. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type vi patient previously with bone marrow transplantation. Am J Med Genet A. 2012;158A(5):1158–1163. doi:10.1002/ajmg.a.35263. PubMed PMID: 22495825
  • Solanki GA, Alden TD, Burton BK, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107:15–24. doi:10.1016/j.ymgme.2012.07.018. PubMed PMID: 22938833
  • Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome). Am J Med Genet A. 2005;134A(2):144–150. doi:10.1002/ajmg.a.30579. PubMed PMID: 15690405
  • Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5. doi:10.1186/1750-1172-5-5. PMID: 20385007
  • Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211–219. doi:10.1007/s10545-012-9563-1. PubMed PMID: 23197104
  • Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012;106(1):73–82. doi:10.1016/j.ymgme.2012.02.005. PubMed PMID: 22405600

MPS VII

  • Bernsen PLJA, Wevers RA, Gabreëls FJM, Lamers KJB, Sonnen AEH, Schuurmans Stekhoven JH Phenotypic expression in mucopolysaccharidosis VII. J Neurol Neurosurg Psychiatry. 1987;50(6):699–703. Pubmed PMID 3112309
  • Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H. Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik. 1974;23(2):149–158. Pubmed PMID 4277583
  • Gniadek TJ, Singer N, Barker NJ, et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). Cardiovasc Pathol. 2015;24(5):322–326. doi:10.1016/j.carpath.2015.06.001. Pubmed PMID 26141114
  • Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009;30(4):511–519. doi:10.1002/humu.20828. Pubmed PMID 19224584

MPS IX

  • Imundo L, Leduc CA, Guha S, et al. A complete deficiency of hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis. 2011;34(5):1013–1022. doi:10.1007/s10545-011-9343-3. Pubmed PMID 21559944
  • Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996;335(14):1029–1033. Pubmed PMID 8793927

Fachspezifisch

Allgemeine Empfehlungen zu MPS

  • Beck M, Muenzer J, Scarpa M. Evaluation of disease severity in mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):39–46. doi:10.3233/PRM-2010-0100. PubMed PMID: 21791828
  • Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91-95. Pubmed PMID 21378615
  • Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41–v48. PubMed PMID: 22210670

Anästhesiologie

  • Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
  • Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. Pediatric Anesthesia. 2012;22(8):737–744. doi:10.1111/j.1460-9592.2012.03825.x. Pubmed PMID: 22381044
  • Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet Part A. 2014;9999A:1–15. doi:10.1002/ajmg.a.36833. Pubmed PMID: 25346323
  • Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154–159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
  • Muhlebach MS, Shaffer CB, Georges L, Abode K, Muenzer J. Bronchoscopy and airway management in patients with mucopolysaccharidoses (MPS). Pediatr Pulmonol. 2013;48(6):601–607. doi:10.1002/ppul.22629. PubMed PMID: 22949390
  • Sahin A, Dal D, Ocal T, Aypar U. Airway management of mucopolysaccharidosis with cervical spine involvement. Neurosciences (Riyadh). 2005;10(1):103–105. PubMed PMID: 22473199
  • Sam JA, Baluch AR, Niaz RS, Lonadier L, Kaye AD. Mucopolysaccharidoses: anesthetic considerations and clinical manifestations. Middle East J Anaesthesiol. 2011;21(2):243–250. PubMed PMID: 22435276
  • Solanki GA, Alden TD, Burton BK, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012;107:15–24. doi:10.1016/j.ymgme.2012.07.018. Pubmed PMID: 22938833
  • Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22(9):901–907. doi:10.1111/j.1460-9592.2012.03904.x. Pubmed PMID: 22738181
  • Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096–7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
  • Vitale MG, Skaggs DL, Pace GI, et al. Delphi Consensus Report: Best practices in intraoperative neuromonitoring in spine deformity surgery: development of an intraoperative checklist to optimize response. Spine Deformity. 2014;2(5):333–339. doi:10.1016/j.jspd.2014.05.003.
  • Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211–219. doi:10.1007/s10545-012-9563-1. Pubmed PMID: 23197104
  • Yeung AH, Cowan MJ, Horn B, Rosbe KW. Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 2009;135(1):73–79. doi:10.1001/archoto.2008.515. PubMed PMID: 19153310

Kardiologie

  • Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183–1197. doi:10.1007/s10545-011-9359-8. Pubmed PMID 21744090
  • Felice T, Murphy E, Mullen MJ, Elliott PM. Management of aortic stenosis in mucopolysaccharidosis type I. Int J Cardiol. 2014 Apr 1;172(3):e430–e431. doi:10.1016/j.ijcard.2013.12.233. PubMed PMID: 24502875
  • Fesslová V, Corti P, Sersale G, et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young. 2009;19(2):170–178. doi:10.1017/S1047951109003576. Pubmed PMID: 19195419
  • Gniadek TJ, Singer N, Barker NJ, et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). Cardiovasc Pathol. 2015;24(5):322–326. doi:10.1016/j.carpath.2015.06.001. Pubmed PMID 26141114
  • Mohan UR, Hay AA, Cleary MA, Wraith JE, Patel RG. Cardiovascular changes in children with mucopolysaccharide disorders. Acta Paediatr. 2002;91(7):799–804. Pubmed PMID: 12200906

    Hals, Nase und Ohren/Otolaryngologie

    • Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
    • Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A(1):11–25. PubMed PMID: 25346323
    • Lin HY, Shih SC, Chuang CK, et al. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses. Mol Genet Metab. 2014;111(4):533–538. doi:10.1016/j.ymgme.2014.02.003. PubMed PMID: 24594444
    • Malik V, Nichani J, Rothera MP, et al. Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome). Int J Pediatr Otorhinolaryngol. 2013;77(7):1204–1208. PubMed PMID: 23726952
    • Martins AM, Dualibi AP, Norato D, et al. Guidelines for the management of mucopolysaccharidosis type I. J Pediatr. 2009;155(4)(suppl 2):S32–S46. doi:10.1016/j.jpeds.2009.07.005. Pubmed PMID: 19765409
    • Mesolella M, Cimmino M, Cantone E, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33(4):267–272. PubMed PMID: 24043915
      • Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154–159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
      • Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi:10.1542/peds.2008-0416. PubMed PMID: 19117856
      • Saeed H, Nichani J, Melling C, et al. Feasibility of cochlear implantation in mucopolysaccharidosis. Int J Pediatr Otorhinolaryngol. 2013;77(8):1255–1258. PubMed PMID: 23773334
      • Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab. 2015;S1096–7192(15)30053-30056. doi:10.1016/j.ymgme.2015.09.007. PubMed PMID: 26432669
      • Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211–219. doi:10.1007/s10545-012-9563-1. Pubmed PMID: 23197104
      • Wold SM, Derkay CS, Darrow DH, Proud V. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2010;74(1):27–31. doi:10.1016/j.ijporl.2009.09.042. PubMed PMID: 19931921

        Ophthalmologie

        • Ashworth J, Flaherty M, Pitz S, Ramlee A. Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis. Acta Ophthalmol. 2015;93(2):e111–e117. doi:10.1111/aos.12607. PubMed PMID: 25688487
        • Ashworth JL, Kruse FE, Bachmann B, et al. Ocular manifestations in the mucopolysaccharidoses: a review. Clin Experiment Ophthalmol. 2010;38(suppl 1):12–22. doi:10.1111/j.1442-9071.2010.02364.x
        • Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol. 2012;90(7):595–602. doi:10.1111/j.1755-3768.2011.02280.x. Pubmed PMID: 22136369
          • Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633–1644. doi:10.2147/OPTH.S78368. PubMed PMID: 26379420
          • Ferrari S, Ponzin D, Ashworth JL, et al. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol. 2011;95(5):613–619. doi:10.1136/bjo.2010.179937. PubMed PMID: 20852315
          • Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v34–v40. PubMed PMID: 22210668

            Neurologie

            • Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 2009;15(8):402–404. Pubmed PMID: 19955999
            • Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
            • Delaney KA, Rudser KR, Yund BD, Whitley CB, Haslett PA, Shapiro EG. Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 2014;13:129–137. doi:10.1007/8904_2013_269. PubMed PMID: 24190801
            • Kakkis ED, Neufeld EF. The mucopolysaccharidoses. In: Berg BO, ed. Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141–1166.
            • Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(2):109–118. doi:10.3233/PRM-2010-0115. Pubmed PMID: 21791838
            • Leone A, Rigante D, Amato DZ, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31(2):203–212. doi:10.1007/s00381-014-2578-1. PubMed PMID: 25358811
              • Sganzerla EP, Giussani C, Grimaldi M, et al. Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 2014;40:313–331. doi:10.1007/978-3-319-01065-6_11. PubMed PMID: 24265052
              • Shapiro EG, Nestrasil I, Rudser K, et al. Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment. Mol Genet Metab. 2015;116(1–2):61–68. doi:10.1016/j.ymgme.2015.06.002. PubMed PMID: 26095521
              • Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339–355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
              • Yund B, Rudser K, Ahmed A, et al. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab. 2015;114(2):170–177. doi:10.1016/j.ymgme.2014.12.299. PubMed PMID: 25541100
              • Yuen A, Dowling G, Johnstone B, et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol. 2007 Mar;22(3):260–263. PubMed PMID: 17621494
              • Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2013;34(1):5–13. doi:10.3174/ajnr.A2832. Pubmed PMID: 22790241

                Orthopädie

                • Aslam R, van Bommel AC, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59–65. doi:10.1007/8904_2012_179. PubMed PMID: 23430548
                • Charrow J, Alden TD, Breathnach CA, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114(1):11–18. doi:10.1016/j.ymgme.2014.10.010. PubMed PMID: 25496828
                • Garrido E, Tomé-Bermejo F, Adams CI. Combined spinal arthrodesis with instrumentation for the management of progressive thoracolumbar kyphosis in children with mucopolysaccharidosis. Eur Spine J. 2014;23(12):2751–2757. doi:10.1007/s00586-014-3186-1. PubMed PMID: 24469884.
                • Leone A, Rigante D, Amato DZ, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31(2):203–212. doi:10.1007/s00381-014-2578-1. PubMed PMID: 25358811
                • Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19–v25. doi:10.1093/rheumatology/ker397. PubMed PMID: 22210666
                  • Sganzerla EP, Giussani C, Grimaldi M, et al. Craniovertebral junction pathological features and their management in the mucopolysaccharidoses. Adv Tech Stand Neurosurg. 2014;40:313–331. doi: 10.1007/978-3-319-01065-6_11. PubMed PMID: 24265052
                  • Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36(2):339–355. doi: 10.1007/s10545-013-9586-2. PubMed PMID: 23385297
                  • White KK, Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. 2010;3(1):47–56. doi:10.3233/PRM-2010-0102. PubMed PMID: 21791829
                  • White KK, Jester A, Bache CE. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8(4):295–304. doi:10.1007/s11832-014-0601-4. PubMed PMID: 25001525
                  • White KK, Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg. 2013;21:12-22. doi:10.5435/JAAOS-21-01-12. PubMed PMID: 23281467

                    Pneumologie

                    • Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–210. doi:10.1007/s10545-012-9555-1. PubMed PMID: 23151682
                    • Chiang J, Raiman J, Cutz E, Solomon M, Dell S. Tachypnea of infancy as the first sign of Sanfilippo syndrome. Pediatrics. 2014;134(3):e884–e888. doi:10.1542/peds.2013-2765. PubMed PMID: 25113300
                    • Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr Suppl. 2008;97(457):57–60. doi:10.1111/j.1651-2227.2008.00650.x. PubMed PMID: 18339190
                    • Kasapkara ÇS, Tümer L, Aslan AT, et al. Home sleep study characteristics in patients with mucopolysaccharidosis. Sleep Breath. 2014;18(1):143–149. doi:10.1007/s11325-013-0862-z. PubMed PMID: 23690022
                      • Lin SP, Shih SC, Chuang CK, et al. Characterization of pulmonary function impairments in patients with mucopolysaccharidoses–changes with age and treatment. Pediatr Pulmonol. 2014;49(3):277–284. doi:10.1002/ppul.22774. PubMed PMID: 23401495
                      • Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab. 2014;112(2):154–159. doi:10.1016/j.ymgme.2014.03.013. PubMed PMID: 24767144
                      • Sahin A, Dal D, Ocal T, Aypar U. Airway management of mucopolysaccharidosis with cervical spine involvement. Neurosciences (Riyadh). 2005;10(1):103–105. PubMed PMID: 22473199
                      • Wooten WI III, Muenzer J, Vaughn BV, Muhlebach MS. Relationship of sleep to pulmonary function in mucopolysaccharidosis II. J Pediatr. 2013;162(6):1210–1215. doi:10.1016/j.jpeds.2012.11.039. PubMed PMID: 23305961
                      • Yeung AH, Cowan MJ, Horn B, Rosbe KW. Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg. 2009;135(1):73–79. doi:10.1001/archoto.2008.515. PubMed PMID: 19153310

                        Rheumatologie

                        • Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis [hypothesis]. Pediatr Rheumatol Online J. 2009;7:18. doi:10.1186/1546-0096-7-18. PubMed PMID: 19852785
                        • Coppa GV. Why should rheumatologists be aware of the mucopolysaccharidoses? Rheumatology (Oxford). 2011;50(suppl 5):v1–v3. doi:10.1093/rheumatology/ker391. PubMed PMID: 22210664
                          • Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91–95. PubMed PMID: 21378615
                          • Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19–v25. doi:10.1093/rheumatology/ker397. PubMed PMID: 22210666
                          • Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4–v12. PubMed PMID: 22210669

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