Sindrom Hunter
Hunter syndrome | |
---|---|
Pengelasan dan sumber luaran | |
ICD-10 | E76.1 |
ICD-9 | 277.5 |
OMIM | 309900 |
P. Data Penyakit | 6050 |
MedlinePlus | 001203 |
eMedicine | ped/1029 |
MeSH | D016532 |
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Sindrom Hunter, atau mucopolysaccharidosis Type II, adalah penyakit penyimpanan lysosomal disebabkan kekurangan (atau ketiadaan) enzim, iduronate-2-sulfatase (I2S).[1][2]:544 SIndrom ini dinamakan sempena ahli perubatan Charles A. Hunter (1873–1955), yang pertama kali menggambarkannya pada 1917.[3][4] Dilahirkan di Scotland, Hunter berhijrah ke Kanada dan mengamalkan perubatan di Winnipeg, Manitoba.
Lihat juga
- Genetic counseling
- Sindrom Morquio
- Sindrom Hurler
- Ujian pranatal
Rujukan
- ^ Wraith JE, Scarpa M, Beck M; dll. (2008). "Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy". Eur. J. Pediatr. 167 (3): 267–77. doi:10.1007/s00431-007-0635-4. PMC 2234442. PMID 18038146. Unknown parameter
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ignored (bantuan); Explicit use of et al. in:|author=
(bantuan)CS1 maint: multiple names: authors list (link) - ^ James, William D.; Berger, Timothy G.; dll. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. Explicit use of et al. in:
|author=
(bantuan)CS1 maint: multiple names: authors list (link) - ^ synd/1109 di Who Named It?
- ^ C. A. Hunter. A rare disease in two brothers. Proceedings of the Royal Society of Medicine, London, 1917, 10: 104-116.
Pautan luar
- MPSsociety.org, National MPS Society
- About.com, "Hunter Syndrome", About.com
- CCHS-DL.SLIS.ua.edu, Hunter Syndrome Patient/Family Resources CCHS Resources.
- Hunterpatients.com
- NLM.NIH.gov, GeneReview/NIH/UW entry on Mucopolysaccharidosis Type II
- HideandSeek.org, Foundation For Lysosomal Disease Research
- Elaprase.com, (idursulfase) website.
- ClinicalTrials.gov
- LysosomalStorageResearch.ca, The Hunter Disease eClinic and eBook - virtual education (Inggeris), (Jepun)