References
- 1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Valle D, Beaudet A, Sly WS, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3635-68.
- 2. The Human Gene Mutation Database [Internet]. Cardiff: Institute of Medical Genetics. 2006- [cited 2017 Feb 8]. Available from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GBA.
- 3. Hughes DA, Pastores GM. The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wochenschr. 2010 Dec;160(23-24):594-9. DOI: 10.1007/s10354-010-0864-4
- 4. Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Gaucher disease: Progress and ongoing challenges. Mol Genet Metab. 2017 Jan-Feb;120(1-2):8-21. DOI: 10.1016/j.ymgme.2016.11.006
- 5. Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher’s disease. Bailliere’s Clin Haematol. 1997 Dec;10(4):691-709. DOI: 10.1016/S0950-3536(97)80034-0
- 6. van Dussen L, Hendriks JE, Groener JEM, Boot RG, Hollak CE, Aerts JM. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis. 2014 Nov;37(6):991-1001. DOI: 10.1007/s10545-014-9711-x
- 7. Jeong SY, Park SJ, Kim HJ. Clinical and genetic characteristics of Korean patients with Gaucher disease. Blood Cells Mol Dis. 2011 Jan;46(1):11-4. DOI: 10.1016/j.bcmd.2010.07.010
- 8. Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele. J Pediatr Endocrinol Metab. 2012;25(9-10):957-62. DOI: 10.1515/jpem-2012-0155
- 9. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008 May;29(5):567-83. DOI: 10.1002/humu.20676
- 10. Hruska KS, LaMarca ME, Sidransky E. Gaucher disease: molecular biology and genotype-phenotype correlations. In: Futerman AH, Zimran A, editors. Gaucher disease. Boca Raton (FL): CRC Press; 2007. p. 13-48.
- 11. Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, et al. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet. 2002 Sep;10(9):511-5. DOI: 10.1038/sj.ejhg.5200845
- 12. Peters SP, Coyle P, Glew RH. Differenciation of beta- glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys. 1976 Aug;175(2):569-82. DOI: 10.1016/0003- 9861(76)90547-6
- 13. Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation of glucocerebrosidase by “mismatched” PCR. Clin Chim Acta. 1990 Dec;194(2- 3):161-6. DOI: 10.1016/0009-8981(90)90130-K
- 14. Dahl N, Lagerström M, Erikson A, Pettersson U. Simplified detection of Nci mutation in Gaucher disease. Lancet. 1990 Jun;335(8705):1589-90. DOI: 10.1016/0140-6736(90)91414-6
- 15. Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA. 1991 Dec;88(23):10544-7. DOI: 10.1073/pnas.88.23.10544
- 16. 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 Mar;93(3):1288-92. DOI: 10.1172/JCI117084
- 17. Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998 Oct;273(40):25680-5. DOI: 10.1074/jbc.273.40.25680
- 18. Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000 Jun; 66(6):1777-86. DOI: 10.1086/302925
- 19. Grabowski GA, Horowitz M. Gaucher’s disease: molecular, genetic and enzymological aspects. Bailliere’s Clin Haematol. 1997 Dec;10(4):635-56. DOI: 10.1016/S0950-3536(97)80032-7
- 20. Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet. 2007 Apr;52(5):391-6. DOI: 10.1007/s10038-007-0135-4
- 21. Mattošová S, Chandoga J, Hlavatá A, Saligová J, Maceková D. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations. Isr Med Assoc J. 2015 Mar;17(3):166-70.
- 22. Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, et al. Genetic and clinical features of patients with Gaucher disease in Hungary. Blood Cells Mol Dis. 2007 Jul-Aug;39(1):119-23. DOI: 10.1016/j.bcmd.2007.02.005
- 23. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat. 1994;3(1):1-11. DOI: 10.1002/humu.1380030102
- 24. 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 Jun;344(1-2):101-7. DOI: 10.1016/j.cccn.2004.02.018
- 25. Drugan C, Drugan TC, Grigorescu-Sido P, Naşcu I. Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease. Scand J Clin Lab Invest. 2017;77(4):275-82. DOI: 10.1080/00365513.2017.1303191
- 26. Poll LW, Koch JA, Willers R, Aerts H, Scherer A, Häussinger D, et al. Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients. Blood Cells Mol Dis. 2002 Mar-Apr;28(2):209-20. DOI: 10.1006/bcmd.2002.0511
- 27. Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, et al. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis. 2007 May-Jun;38(3):287-93. DOI: 10.1016/j.bcmd.2006.11.003
- 28. Bronstein S, Karpati M, Peleg L. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H. Isr Med Assoc J. 2014 Nov;16(11):683-5.
- 29. Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S, et al. Functional analysis of 11 novel GBA alleles. Eur J Hum Genet. 2014 Apr;22(4):511-6. DOI: 10.1038/ejhg.2013.182
- 30. Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, et al. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet. 2014 Apr;59(4):223-8. DOI: 10.1038/jhg.2014.5