Michaud M, Belmatoug N, Catros F, Ancellin S, Touati G, Levade T, et al. [Mucopolysaccharidosis: A review]. Rev Med Interne. 2020 Mar. 41 (3):180-188. [QxMD MEDLINE Link].
Bassyouni HT, Afifi HH, el-Awadi MK, Meguid NA. Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. 2000 Mar-May. 6 (2-3):359-66. [QxMD MEDLINE Link].
Jones KL, Jones MC, del Campo M. Storage disorders. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia: Elsevier; 2022. 638-57.
Muenzer J. Mucopolysaccharidoses. Adv Pediatr. 1986. 33:269-302. [QxMD MEDLINE Link].
Verheyen S, Blatterer J, Speicher MR, Bhavani GS, Boons GJ, Ilse MB, et al. Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency. J Med Genet. 2021 Dec 16. [QxMD MEDLINE Link]. [Full Text].
Federhen A, Pasqualim G, de Freitas TF, Gonzalez EA, Trapp F, Matte U, et al. Estimated birth prevalence of mucopolysaccharidoses in Brazil. Am J Med Genet A. 2020 Mar. 182 (3):469-483. [QxMD MEDLINE Link].
Viskochil D, Muenzer J, Guffon N, Garin C, Munoz-Rojas MV, Moy KA, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017 Dec. 59 (12):1269-1275. [QxMD MEDLINE Link].
Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. 1996 Nov. 78 (6):938-44. [QxMD MEDLINE Link].
Masterson EL, Murphy PG, O'Meara A, Moore DP, Dowling FE, Fogarty EE. Hip dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J Pediatr Orthop. 1996 Nov-Dec. 16 (6):731-3. [QxMD MEDLINE Link].
Dupont C, El Hachem C, Harchaoui S, Ribault V, Amiour M, Guillot M, et al. [Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]. Arch Pediatr. 2008 Jan. 15 (1):45-9. [QxMD MEDLINE Link].
Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb. 121 (2):e377-86. [QxMD MEDLINE Link].
Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, 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 Mar. 167 (3):267-77. [QxMD MEDLINE Link].
Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr. 2012 Apr. 171 (4):631-9. [QxMD MEDLINE Link]. [Full Text].
Menkès CJ, Rondot P. Idiopathic osteonecrosis of femur in adult Morquio type B disease. J Rheumatol. 2007 Nov. 34 (11):2314-6. [QxMD MEDLINE Link].
Tong CK, Chen JC, Cochrane DD. Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome. J Neurosurg Pediatr. 2012 Jun. 9 (6):608-12. [QxMD MEDLINE Link].
Thümler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, et al. Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis. 2012 Nov. 35 (6):1071-9. [QxMD MEDLINE Link].
Rosselli D, Rueda JD, Solano M. Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia. J Med Ethics. 2012 Nov. 38 (11):699-700. [QxMD MEDLINE Link].
Lee CL, Chuang CK, Hsu CH, Chiu HC, Tu RY, Lo YT, et al. The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. J Formos Med Assoc. 2021 Aug 19. [QxMD MEDLINE Link]. [Full Text].
Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008 Mar. 41 (6):531-5. [QxMD MEDLINE Link].
Bulut E, Pektas E, Sivri HS, Bilginer B, Umaroglu MM, Ozgen B. Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI. Br J Radiol. 2018 May. 91 (1085):20170744. [QxMD MEDLINE Link].
Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, et al. Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I. Mol Genet Metab. 2022 Jan 7. [QxMD MEDLINE Link].
Aboulnasr AA, Elnouri A, Abdel Sameea G, Gouda AS, Ibrahim MM, Shalabi TA, et al. Prenatal diagnosis of mucopolysaccharidoses type II by two-dimensional electrophoresis and mass spectrometry in amniotic fluid. J Obstet Gynaecol Res. 2022 Jan 13. [QxMD MEDLINE Link].
Chan YL, Lin SP, Man TT, Cheng CR. Clinical experience in anesthetic management for children with mucopolysaccharidoses: Report of ten cases. Acta Paediatr Taiwan. 2001 Sep-Oct. 42 (5):306-8. [QxMD MEDLINE Link].
Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, et al. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet. 2008 Mar 15. 17 (6):815-24. [QxMD MEDLINE Link].
Guffon N, Souillet G, Maire I, Straczek J, Guibaud P. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr. 1998 Jul. 133 (1):119-25. [QxMD MEDLINE Link].
Gaffke L, Pierzynowska K, Piotrowska E, Węgrzyn G. How close are we to therapies for Sanfilippo disease?. Metab Brain Dis. 2018 Feb. 33 (1):1-10. [QxMD MEDLINE Link]. [Full Text].
Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, et al. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019 Nov. 64 (11):1153-1171. [QxMD MEDLINE Link].
Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. 2008 Feb. 9 (2):311-7. [QxMD MEDLINE Link].
Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, et al. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study. Mol Genet Metab. 2018 Feb. 123 (2):127-134. [QxMD MEDLINE Link]. [Full Text].
McCafferty EH, Scott LJ. Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. BioDrugs. 2019 Apr. 33 (2):233-240. [QxMD MEDLINE Link]. [Full Text].
Poswar FO, Santos HS, Santos ABS, Berger SV, de Souza CFM, Giugliani R, et al. Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy. Front Cardiovasc Med. 2021. 8:801147. [QxMD MEDLINE Link]. [Full Text].
Arn P, Whitley C, Wraith JE, Webb HW, Underhill L, Rangachari L, et al. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012 Mar. 47 (3):477-84. [QxMD MEDLINE Link].
White KK, Jester A, Bache CE, Harmatz PR, Shediac R, Thacker MM, et al. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014 Aug. 8 (4):295-304. [QxMD MEDLINE Link].
Dhawale AA, Thacker MM, Belthur MV, Rogers K, Bober MB, Mackenzie WG. The lower extremity in Morquio syndrome. J Pediatr Orthop. 2012 Jul-Aug. 32 (5):534-40. [QxMD MEDLINE Link].
Leone A, Rigante D, Amato DZ, Casale R, Pedone L, Magarelli N, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015 Feb. 31 (2):203-12. [QxMD MEDLINE Link].
Remondino RG, Tello CA, Noel M, Wilson AF, Galaretto E, Bersusky E, et al. Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases. Spine Deform. 2019 Mar. 7 (2):298-303. [QxMD MEDLINE Link].