Sindrom Hunter

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Hunter syndrome
Pengelasan dan sumber luaran
ICD-10E76.1
ICD-9277.5
OMIM309900
P. Data Penyakit6050
MedlinePlus001203
eMedicineped/1029
MeSHD016532
Wikipedia tidak memberikan nasihat perubatan Penafian perubatan

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.


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Rujukan[sunting | sunting sumber]

  1. ^ 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 |month= ignored (bantuan); Explicit use of et al. in: |author= (bantuan)CS1 maint: multiple names: authors list (link)
  2. ^ 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)
  3. ^ synd/1109 di Who Named It?
  4. ^ C. A. Hunter. A rare disease in two brothers. Proceedings of the Royal Society of Medicine, London, 1917, 10: 104-116.

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