참고문헌
- Charles AS, Michael JB. Defects in metabolism of lipids. In: Kilegman RM, Behrman RE, Jenson HB, Stanton B, editors. Nelson textbook of pediatrics. 18th ed. Philadelphia: WB Saunders Co., 2007:595-7.
- Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965;18:221-5. https://doi.org/10.1016/0006-291X(65)90743-6
- Barneveld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet 1983;64:227-31. https://doi.org/10.1007/BF00279398
- Lam KW, Li CY, Yam LT, Smith RS, Hacker B. Comparison of prostatic and nonprostatic acid phosphatase. Ann N Y Acad Sci 1982;390:1-15. https://doi.org/10.1111/j.1749-6632.1982.tb40300.x
- Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992;71:337-53. https://doi.org/10.1097/00005792-199211000-00002
- Cabrera-Salazar MA, O'Rourke E, Henderson N, Wessel H, Barranger JA. Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clin Chim Acta 2004;344:101-7. https://doi.org/10.1016/j.cccn.2004.02.018
- Kundson AG, Kaplan WD. Genetics of the sphingolipidosis. In: Aronson SM, Volk BW, editors. Cerebral sphingolipidoses: a symposium on Tay- Sachs' disease and allied disorders. New York: Academic Press, 1962:395-411.
- Balicki D, Beutler E. Gaucher disease. Medicine (Baltimore) 1995;74:305- https://doi.org/10.1097/00005792-199511000-00002
- Barranger JA, Rice E, Sakallah SA, Sansieri C, Mifflin TE, Cooper DL. Enzymatic and molecular diagnosis of Gaucher disease. Clin Lab Med 1995;15:899-913.
- Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 2005;129:178-88. https://doi.org/10.1111/j.1365-2141.2004.05351.x
- Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 1993;43:1993-7. https://doi.org/10.1212/WNL.43.10.1993
- Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 1994;3:1-11. https://doi.org/10.1002/humu.1380030102
- Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1997;23:2-7. https://doi.org/10.1006/bcmd.1997.0114
- Jeong SY, Park SJ, Kim HJ. Clinical and genetic characteristics of Korean patients with Gaucher disease. Blood Cells Mol Dis 2011;46:11-4. https://doi.org/10.1016/j.bcmd.2010.07.010
- Choi HS, Kim SH, Ida H, Kim HJ. The clinical characteristics and gene analysis of Korean Gaucher disease with central nervous system involvement. J Korean Pediatr Soc 2000;43:611-8.
- Martins AM, Valadares ER, Porta G, Coelho J, Semionato Filho J, Pianovski MA, et al. Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr 2009;155(4 Suppl):S10-8. https://doi.org/10.1016/j.jpeds.2009.07.004
- Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab 2007;90:157-63. https://doi.org/10.1016/j.ymgme.2006.09.003
- Chen M, Wang J. Gaucher disease: review of the literature. Arch Pathol Lab Med 2008;132:851-3.
- Grigorescu Sido P, Drugan C, Cret V, Al-Kzouz C, Denes C, Coldea C, et al. Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience. J Inherit Metab Dis 2007;30: 783-9. https://doi.org/10.1007/s10545-007-0621-z
- vom Dahl S, Mengel E. Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract Res Clin Gastroenterol 2010;24:619-28. https://doi.org/10.1016/j.bpg.2010.09.001
- Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 1994;93:1288-92. https://doi.org/10.1172/JCI117084
- Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat 2007;28:866-73. https://doi.org/10.1002/humu.20524
- Dodelson de Kremer R, Paschini de Capra A, Angaroni CJ, Giner de Ayala A. Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders. Medicina (B Aires) 1997;57:677-84.
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