- Gaucher's Disease: A Report of Two Cases in Homozygous Twins
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Kang JD, Kim KY, Lee YH, Lee KS
- KMID: 2443463
- J Korean Orthop Assoc.
- 1990 Jun;25(3):967-972.
- doi: 10.4055/jkoa.1990.25.3.967
Gaucher's disease is an uncommon metabolic disorder, which was first described by Gaucher in 1882, characterized by accumulation of distinctive Gaucher's cells in the reticuloendothelial system such as spleen, liver,... -
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- Three Cases of Factor XI Deficiency
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Rha JY, Kook JH, Kook H, Yang SJ, Cho D, Ryang DW, Choi YY, Hwang TJ
- KMID: 2072511
- Korean J Pediatr Hematol Oncol.
- 2001 Oct;8(2):344-348.
Factor XI deficiency is a very rare autosomal recessive coagulation factor deficiency, comprising 1/million in ethnic groups other than Ashkenazi Jews. The clinical manifestations are extremely variable, and generally... -
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- Anesthetic experience of a patient with hereditary factor XI deficiency (Hemophilia C) : A case report
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Kim YS, Chung EY, Yoon JR, Han IS, Park AR, Kim TK, Lee CW
- KMID: 2092206
- Korean J Anesthesiol.
- 2009 Jun;56(6):706-708.
- doi: 10.4097/kjae.2009.56.6.706
Factor XI deficiency (also called Hemophilia C) rarely occurs among ethnicities other than Ashkenazi Jews. A boy was scheduled for frontoethmoidectomy due to bilateral chronic rhinosinusitis. He was incidentally found... -
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- A Case of Idiopathic Kaposi's Sarcoma of the Skin and Oropharynx
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Kim YJ, Kwon OS, Kweon S, Sung YO
- KMID: 1922485
- Korean J Otolaryngol-Head Neck Surg.
- 1998 Jan;41(1):109-112.
Kaposi's sarcoma is one of the important features of acquired immunodeficiency syndrome (AIDS) patients, renal transplanted patients, young African men, and elderly Ashkenazi Jews. It is well recognized as the... -
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- A Case of Canavan Disease
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Yoon SY, Kim JH, Ko TS, Choi CK, Kong KY
- KMID: 2329220
- J Korean Child Neurol Soc.
- 1997 Oct;5(1):159-166.
Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also... -
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- The DYT1 Gene Mutation in Primary Torsion Dystonia without Familial Background
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Lee CS, Chung SJ, Im JH, Lee MC, Yoo HW
- KMID: 2343040
- J Korean Neurol Assoc.
- 2003 Apr;21(2):169-173.
BACKGROUND: The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and transmits as autosomal dominant trait. It usually begins as... -
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- Shellfish and House Dust Mite Allergies: Is the Link Tropomyosin?
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Wong L, Huang CH, Lee BW
- KMID: 2165925
- Allergy Asthma Immunol Res.
- 2016 Mar;8(2):101-106.
- doi: 10.4168/aair.2016.8.2.101
Crustacean shellfish allergy is an important cause of food allergy and anaphylaxis in Asia. The major allergen in shellfish allergy is tropomyosin, a pan-allergen that is also found in house... -
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- Association Analysis of Neuregulin 3 Gene with Schizophrenia in a Korean Population
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Shin S, Choi JT, Kim JW, Roh YH, Park BL, Bae JS, Shin HD, Choi IG, Han SW, Hwang J, Woo SI
- KMID: 2029136
- Korean J Biol Psychiatry.
- 2012 Aug;19(3):128-133.
OBJECTIVES: Located on chromosome 10q22-q23, the human neuregulin 3 (NRG3) is suggested as a strong positional and functional candidate gene involved in the pathogenesis of schizophrenia. Several case-control studies examining... -
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- Radiodermatitis from Occupational Exposure to 192Ir
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Kim KJ, Yoo JH
- KMID: 2028010
- Korean J Occup Environ Med.
- 1998 Feb;10(1):128-135.
Portable gamma radiography for nondestructive testing with 192Ir is commonly used in various industrial fields to defect possible internal defects of metals in pipelines, tanks, bridges, ships and so forth... -
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- Synergistic apoptotic effect of Taxol on oral squamous cell carcinoma by cyclosporin A
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Suh MJ, Han SJ, Lee JH
- KMID: 2058660
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 2007 Sep;29(5):394-404.
Oral squamous cell carcinoma is the most prevalent oral cancer, which is characterized by its high metastasis and recurrent rates and poor prognosis. Taxol is an anticancer agent which is... -
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- Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates
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Helpman L, Zidan O, Friedman E, Kalfon S, Perri T, Ben-Baruch G, Korach J
- KMID: 2413221
- J Gynecol Oncol.
- 2017 Sep;28(5):e61.
- doi: 10.3802/jgo.2017.28.e61
OBJECTIVE: The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. METHODS: Consecutive EOC patients diagnosed at or... -
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