Jaké jsou projevy a příznaky?
Hlavními projevy a příznaky Gaucherovy choroby jsou zvětšená játra a slezina, nízké počty krevních destiček a hemoglobinu a potíže s kostmi a klouby.
1. Burrow TA, Barnes S, Grabowski GA. Prevalence and management of Gaucher disease. Pediatric Health, Medicine and Therapeutics 2011;2:59-73.
2. Kerem M. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Resp J 1996;9:340-345.
3. HAS Sante Guide for Doctors: Long-Term Conditions. Gaucher Disease. National Diagnosis and Treatment Protocol. Hatue Autorite de Sante. 2007;1-45.
4. Khan A, Hangartner T, Weinreb NJ, Taylor JS, Mistry PK. Risk factors for Fractures and Avascular Osteonecrosis in Type 1 Gaucher Disease: A Study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res 2012;27:1839-48.
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