Použitá literatura

Brady RO. Gaucher’s disease: past, present and future. Bailleres Clin Haematol 1997;10(4):621-34.
Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, Scott CR, Wappner RS, Weinreb NJ, Wisch JS. Gaucher Disease: Recommendations on Diagnosis, Evaluation, and Monitoring. Arch Intern Med. 1998;158(16):1754-1760
Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailleres Clin Haematol 1997;10(4):657-689.
Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 1998;7(5):373-386.
Dahl N, Lagerstrom M, Erikson A, Pettersson U. Gaucher disease type III (Norbottnian type) is caused by a single mutation in exon 10 of the acid-β glucosidase gene. Am J Hum Genet 1990;47(2):275-8.
Grabowski G. Gaucher disease: Enzymology, genetics, and treatment. In: Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993;21: 377-441.
Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. http://ommbid.mhmedical.com/content.aspx?bookid=474&sectionid=45374148. Accessed July 6, 2015.
Gupta N, Oppenheim I, Kauvar E, Tayebi N, Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis 2011;46(1):75-84.
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol 2007;82:697–701.
Mistry PK, Abrahamov A. A practical approach to diagnosis and management of Gaucher’s disease. Bailliere's Clinical Haematology. 1997;10(4): 817-838.
Mistry PK, Cappellini M, Lukina E, et al. Consensus Conference: a reappraisal of Gaucher disease –diagnosis and disease management algorithms. Am J Hematol 2011;86(1):110-115.
Pastores G, Weinreb N, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41 (suppl 5):4-14.
Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83(1-2):6-15.
Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008 Dec;83(12):896-900.