General MPS recommendations:
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
Anaesthesiology
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 anaesthetic techniques and complications in children with mucopolysaccharidoses. Paediatric Anaesthesia. 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: anaesthetic considerations and clinical manifestations. Middle East J Anaesthesiol. 2011;21(2):243-50. 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. Anaesthetic 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 optimise 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
Cardiology
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
ENT/ Otolaryngology
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. Paediatrics. 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 paediatric 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
Ophthalmology
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.
Neurology
Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheum. 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
Orthopaedics
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. Orthopaedic 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. Orthopaedic 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
Pulmonology
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. Paediatrics. 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. Characterisation 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
Rheumatology
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
