- A case of Hunter's Syndrome: Mucopolysaccharidosis type II
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Cheong HI, Yand HW, Lee KD, Moon HR
- KMID: 1667808
- J Korean Pediatr Soc.
- 1979 Dec;22(12):1074-1079.
We experienced a case of Hunter's syndrome (mucopolysaccharidesis type II) in 9 year old male poatient, whose diagnosis was established by typical findings in physical examination, family history, and radiologic... -
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- Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea
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Ko DS, Lee SH, Park CW, Lim CK
- KMID: 2469598
- Clin Exp Reprod Med.
- 2019 Dec;46(4):206-210.
- doi: 10.5653/cerm.2019.00094
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive... -
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- A case of Hunter syndrome
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Ha SH, Ko YS, Ahn MS, Oh JS
- KMID: 1691872
- J Korean Pediatr Soc.
- 1991 Mar;34(3):398-403.
No abstract available. -
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- A Case of Hunter Syndrome with Characteristic Skin Lesions
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Kim CG, Kwon KS, Chung TA
- KMID: 2085777
- Korean J Dermatol.
- 1994 Nov;32(6):1090-1094.
We report a typical case of Hunters syndrr me in a 9 year old boy, who presented with firm skin colored nodules that coalesce to form a reticular pattern on... -
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- A Case of Hunter Syndrome
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Kim SK, Chung WP, Kim HS, Kim SH, Kang CM
- KMID: 1676848
- J Korean Pediatr Soc.
- 1986 Dec;29(12):109-114.
No abstract available. -
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- Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation
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Lee JH, Choe YH, Kim SJ, Paik KH, Jin DK
- KMID: 1779661
- Yonsei Med J.
- 2011 Mar;52(2):263-267.
- doi: 10.3349/ymj.2011.52.2.263
PURPOSE: Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study,... -
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- Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs)
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Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK
- KMID: 2279075
- Korean J Pediatr.
- 2005 Oct;48(10):1132-1138.
PURPOSE: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is... -
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- Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
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Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK
- KMID: 1789984
- J Korean Med Sci.
- 2014 Feb;29(2):254-260.
- doi: 10.3346/jkms.2014.29.2.254
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme... -
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- A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
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Lee JY, Shim JO, Yang HR, Chang JY, Shin CH, Ko JS, Seo JK, Kim WS, Kang GH, Song JH, Kim JW
- KMID: 2280303
- Korean J Pediatr.
- 2008 Jun;51(6):650-654.
- doi: 10.3345/kjp.2008.51.6.650
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation... -
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- Early Retinal Changes in Hunter Syndrome According to Spectral Domain Optical Coherence Tomography
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Kim S, Yoo YJ, Woo SJ, Yang HK
- KMID: 2160468
- Korean J Ophthalmol.
- 2016 Apr;30(2):151-153.
- doi: 10.3341/kjo.2016.30.2.151
No abstract available. -
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- A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
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Lee OJ, Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK
- KMID: 2284314
- Korean J Pediatr.
- 2012 Mar;55(3):88-92.
- doi: 10.3345/kjp.2012.55.3.88
PURPOSE: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging... -
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- Extensive Mongolian Spots Associated with Hunter Syndrome
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Chun EY, Kim HS, Lee JS, Lee MG
- KMID: 2250789
- Korean J Dermatol.
- 2002 Jul;40(7):820-824.
We report a case of Hunter syndrome with extensive Mongolian spots. A 4-year-old male baby presented with asymptomatic, firm, raised, ivory-colored papules and nodules which coalesced to form ridges in... -
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- Hunter Syndrome with Extensive Mongolian Spots
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You HS, Kim WI, Kim JM, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC
- KMID: 2378550
- Ann Dermatol.
- 2017 Jun;29(3):381-382.
- doi: 10.5021/ad.2017.29.3.381
No abstract available. -
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- Rotational Vertebral Artery Compression : Bow Hunter's Syndrome
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Go G, Hwang SH, Park IS, Park H
- KMID: 2190906
- J Korean Neurosurg Soc.
- 2013 Sep;54(3):243-245.
- doi: 10.3340/jkns.2013.54.3.243
Bow hunter's syndrome (BHS) is rare cause of vertebrobasilar insufficiency that arises from mechanical compression of the vertebral artery by head rotation. There is no standardized diagnostic regimen or treatment... -
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- A Case of Hunter's Syndrome
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Suhr GB, Lee JH, Park JK, Song KY
- KMID: 2362044
- Ann Dermatol.
- 1990 Jul;2(2):132-135.
- doi: 10.5021/ad.1990.2.2.132
We report a case of Hunter's syndrome in an 8-year-old boy, who presented with ivory-white colored papules and ridges on the left chest area, which were regarded as pathognomonic cutaneous... -
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- A Case of Pulmonary Edema which Developed after Difficult Endotracheal Intubation of Hunter Syndrome: A Case Report
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Kim HJ, Yoon SH, Kim YH, Yoon HS
- KMID: 2228508
- Korean J Crit Care Med.
- 2005 Dec;20(2):187-191.
Hunter syndrome is one of the mucopolysaccharidoses, characterized by abnormal accumulation and deposition of mucopolysaccharides in the tissues of several organs which are known to complicate anaesthetic and airway management.... -
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- Otolaryngological Manifestation of Hunter Syndrome
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Cho YS, Kim HY, Baek CH, Hwang SJ, Jin DK, Yoon HH, Chang SA
- KMID: 2274611
- Korean J Otolaryngol-Head Neck Surg.
- 2000 Jan;43(1):29-35.
BACKGROUND AND OBJECTIVE: Hunter syndrome(mucopolysaccharidosis (MPS) type II) is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and skeletal abnormalities, distinctive facial features, hearing loss, and airway... -
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- A Case of Hunter's Syndrome With Ivory-colored Papules
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Nam KS, Lee JY, Whang KU, Kim YK
- KMID: 2360451
- Ann Dermatol.
- 1996 Oct;8(4):278-281.
- doi: 10.5021/ad.1996.8.4.278
We report a case of Hunter' s syndrome with characteristic nodules on the upper back. The patient was a 7-year-old Korean boy who presented with ivory-colored papules and nodules on... -
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- Cervicogenic Vertigo Treated by C1 Transverse Foramen Decompression : A Case Report
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Park J, Lee C, You N, Kim S, Cho K
- KMID: 1885682
- Korean J Spine.
- 2014 Sep;11(3):209-211.
- doi: 10.14245/kjs.2014.11.3.209
Cervicogenic vertigo was known as Bow hunter's syndrome. Occlusion of vertebral artery causes vertebrobasilar insufficiency and we reported cervicogenic vertigo case which was treated by simple decompression of transverse foramen... -
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- Life Experiences of Mothers in Parenting Children with Hunter's Syndrome
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Kang SY
- KMID: 1499489
- J Korean Acad Nurs.
- 2012 Oct;42(5):609-621.
- doi: 10.4040/jkan.2012.42.5.609
PURPOSE: The purpose of this study was to explore the experiences of Korean mothers in parenting children with Hunter's syndrome, an X linked recessive genetically inherited disease usually affecting boys. METHODS:... -
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