Mucopolysaccharidosis Type III

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Rita Xu	+ 649 word(s)	649	2020-12-15 07:32:02

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Xu, R. Mucopolysaccharidosis Type III. Encyclopedia. Available online: https://encyclopedia.pub/entry/4320 (accessed on 28 September 2026).

Xu R. Mucopolysaccharidosis Type III. Encyclopedia. Available at: https://encyclopedia.pub/entry/4320. Accessed September 28, 2026.

Xu, Rita. "Mucopolysaccharidosis Type III" Encyclopedia, https://encyclopedia.pub/entry/4320 (accessed September 28, 2026).

Xu, R. (2020, December 23). Mucopolysaccharidosis Type III. In Encyclopedia. https://encyclopedia.pub/entry/4320

Xu, Rita. "Mucopolysaccharidosis Type III." Encyclopedia. Web. 23 December, 2020.

Mucopolysaccharidosis Type III

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.

genetic conditions

References

Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis ofmucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct;113(1-2):34-41. doi: 10.1016/j.ymgme.2014.07.013.
Gilkes JA, Heldermon CD. Mucopolysaccharidosis III (Sanfilippo Syndrome)-disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014Sep;12 Suppl 1:133-40. Review.
Malm G, Månsson JE. Mucopolysaccharidosis type III (Sanfilippo disease) inSweden: clinical presentation of 22 children diagnosed during a 30-year period.Acta Paediatr. 2010 Aug;99(8):1253-7. doi: 10.1111/j.1651-2227.2010.01800.x.
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N.Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA(Sanfilippo syndrome type A). Pediatrics. 2007 Nov;120(5):e1255-61.
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, vanDiggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. Clinical andgenetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab. 2008 Feb;93(2):104-11.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R,Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B,Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D,Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ,Poorthuis BJ, van Diggelen OP. Mucopolysaccharidosis type IIID: 12 new patientsand 15 novel mutations. Hum Mutat. 2010 May;31(5):E1348-60. doi:10.1002/humu.21234.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi:10.1007/s10545-008-0838-5.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu

View Times: 755

Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

Video Upload Options

References