References
1. Suarez-Guerrero JL, Gómez Higuera PJI, Arias Flórez JS,
Contreras-García GA. [Mucopolysaccharidosis: clinical features,
diagnosis and management]. Rev Chil Pediatr .
2016;87(4):295-304. doi:10.1016/j.rchipe.2015.10.004
2. Gaffke L, Pierzynowska K, Podlacha M, Brokowska J, Węgrzyn G. Changes
in cellular processes occurring in mucopolysaccharidoses as
underestimated pathomechanisms of these diseases. Cell Biol Int .
2021;45(3):498-506. doi:10.1002/cbin.11275
3. Zhou J, Lin J, Leung WT, Wang L. A basic understanding of
mucopolysaccharidosis: Incidence, clinical features, diagnosis, and
management. Intractable Rare Dis Res . 2020;9(1):1-9.
doi:10.5582/irdr.2020.01011
4. Michaud M, Belmatoug N, Catros F, et al. Mucopolysaccharidoses :
quand y penser ? La Revue de Médecine Interne .
2020;41(3):180-188. doi:10.1016/j.revmed.2019.11.010
5. Stapleton M, Hoshina H, Sawamoto K, et al. Critical review of current
MPS guidelines and management. Mol Genet Metab .
2019;126(3):238-245. doi:10.1016/j.ymgme.2018.07.001
6. D’Avanzo F, Rigon L, Zanetti A, Tomanin R. Mucopolysaccharidosis Type
II: One Hundred Years of Research, Diagnosis, and Treatment.International Journal of Molecular Sciences . 2020;21(4):1258.
doi:10.3390/ijms21041258
7. Wraith JEd. Chapter 102 - Mucopolysaccharidoses. In: Rimoin D,
Pyeritz R, Korf B, eds. Emery and Rimoin’s Principles and Practice
of Medical Genetics . Academic Press; 2013:1-40.
doi:10.1016/B978-0-12-383834-6.00107-5
8. Matalon R, Matalon KM. Mucopolysaccharidoses. In: Aminoff MJ, Daroff
RB, eds. Encyclopedia of the Neurological Sciences . Academic
Press; 2003:237-241. doi:10.1016/B0-12-226870-9/01991-2
9. Torres R de O, Pintor AVB, Guedes FR, et al. Oral and craniofacial
manifestations in a Hunter syndrome patient with hematopoietic stem cell
transplantation: A case report. Spec Care Dentist .
2018;38(1):51-54. doi:10.1111/scd.12260
10. Chen CP, Lin SP, Tzen CY, et al. Prenatal diagnosis and genetic
counseling of mucopolysaccharidosis type II (Hunter syndrome).Genet Couns . 2007;18(1):49-56.
11. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al.
Diagnosis of Mucopolysaccharidoses. Diagnostics . 2020;10(3):172.
doi:10.3390/diagnostics10030172
12. Shah GS, Mahal T, Sharma S. Atypical clinical presentation of
mucopolysaccharidosis type II (Hunter syndrome): a case report. J
Med Case Rep . 2010;4:154. doi:10.1186/1752-1947-4-154
13. Rasheeedah I, Patrick O, Abdullateef A, Mohammed A, Sherifat K,
Gbadebo I. Challenges in the Management of Mucopolysaccharidosis Type II
(Hunter’s Syndrome) in a Developing Country: a Case Report. Ethiop
J Health Sci . 2015;25(3):279-282. doi:10.4314/ejhs.v25i3.12
14. Cohn GM, Morin I, Whiteman DAH, on behalf of the Hunter Outcome
Survey Investigators. Development of a mnemonic screening tool for
identifying subjects with Hunter syndrome. Eur J Pediatr .
2013;172(7):965-970. doi:10.1007/s00431-013-1967-x
15. Rayamajhi A, Pokharel PJ, Chapagain R, Rayamajhi AK.
Mucopolysaccharidosis type II with inguinal hernia. J Nepal Health
Res Counc . 2013;11(25):293-295.
16. 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
17. Suzuki K, Sakai H, Takahashi K. Perioperative airway management for
aortic valve replacement in an adult with mucopolysaccharidosis type II
(Hunter syndrome). JA Clin Rep . 2018;4(1):24.
doi:10.1186/s40981-018-0162-5
18. Orchel-Szastak K, Ptak K, Hrnciar K, Pilch B, Kania U,
Bik-Multanowski M. [Early enzyme replacement therapy - hope for
patients with mucopolysaccharidosis Type II]. Pediatr Endocrinol
Diabetes Metab . 2017;23(2):111-116. doi:10.18544/PEDM-23.02.0082
19. Christianto A, Watanabe H, Nakajima T, Inazu T. Idursulfase enzyme
replacement therapy in an adult patient with severe Hunter syndrome
having a novel mutation of iduronate-2-sulfatase gene. Clin Chim
Acta . 2013;423:66-68. doi:10.1016/j.cca.2013.04.022