Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups |
Lee, Ju-Young
(Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Jung, Chang-Woo (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Lee, Jin (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) |
1 | 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. DOI ScienceOn |
2 | vom Dahl S, Mengel E. Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract Res Clin Gastroenterol 2010;24:619-28. DOI ScienceOn |
3 | 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. DOI ScienceOn |
4 | 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. DOI ScienceOn |
5 | 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. |
6 | 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. |
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. DOI ScienceOn |
8 | 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. DOI ScienceOn |
9 | 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. DOI |
10 | 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. DOI ScienceOn |
11 | 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. DOI ScienceOn |
12 | 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. |
13 | Balicki D, Beutler E. Gaucher disease. Medicine (Baltimore) 1995;74:305- DOI ScienceOn |
14 | Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 1994;3:1-11. DOI ScienceOn |
15 | 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. |
16 | Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 2005;129:178-88. DOI ScienceOn |
17 | 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. DOI ScienceOn |
18 | Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1997;23:2-7. DOI ScienceOn |
19 | Jeong SY, Park SJ, Kim HJ. Clinical and genetic characteristics of Korean patients with Gaucher disease. Blood Cells Mol Dis 2011;46:11-4. DOI ScienceOn |
20 | 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. |
21 | 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. DOI |
22 | 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. DOI ScienceOn |
23 | Chen M, Wang J. Gaucher disease: review of the literature. Arch Pathol Lab Med 2008;132:851-3. |
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