「ムコ多糖症の患者さんは複雑な多臓器障害を患っていますから、集学的な専門家チームによって作成された、正しい治療計画に従う必要があります。」―Rossella Parini医師

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ムコ多糖症とその早期診断に関する資料

【動画】ムコ多糖症ⅣA型このような症状の患者さんに心当たりはありませんか

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ムコ多糖症に関するもの

ムコ多糖症I型

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

ムコ多糖症II型

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

ムコ多糖症III型

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

ムコ多糖症IVA型/モルキオ症候群A型

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

ムコ多糖症VI型

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

ムコ多糖症VII型

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

ムコ多糖症IX型

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

専門領域に関するもの

ムコ多糖症全般に関する推奨事項：

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

麻酔科

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

循環器科

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

耳鼻咽喉科

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

眼科

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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
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リウマチ科

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
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