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Gaucher’s disease: orphan disease in pediatric practice

Abstract

Approaches to diagnostics and treatment of Gaucher’s disease in children were considered. A clinical case is given. 

About the Author

T. A. Bokova
ГБУЗ МО МОНИКИ им. М. Ф. Владимирского
Russian Federation


References

1. Stirnemann J., Belmatoug N., Camou F., Serratrice C. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments // Int J Mol Sci. 2017, Feb. 17; 18 (2), pii: E441. DOI: 10.3390/ijms18020441.

2. Grabowski G. A., Andria G., Baldellou A. et al. Pediatric nonneuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements // Eur J Pediatr. 2004, v. 163, p. 58-66.

3. Vellodi A., Bembi B., de Villemeur T. B. et al. Management of neuronopathic Gaucher disease: a European consensus // J Inherit Metab Dis. 2001, v. 24, p. 319-327.

4. Болезнь Гоше у детей. Клинические рекомендации. 2016. 28 с.


Review

For citations:


Bokova T.A. Gaucher’s disease: orphan disease in pediatric practice. Lechaschi Vrach. 2019;(9):21. (In Russ.)

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ISSN 1560-5175 (Print)
ISSN 2687-1181 (Online)