Болезнь Фабри: особенности заболевания у детей и подростков



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Eur. Heart J
. 2007; 
28: 1228–1235.
30. Pitz S., Grube-Einwald K., Renieri G., Reinke J. Subclinical optic 
neuropathy in Fabry disease. 
Ophthalmic Genet. 
2009; 30: 165–171.
31. Hoffmann B., Keshav S. Gastrointestinal symptoms in Fabry 
disease: everything is possible, including treatment. 
Acta Paediatr. 
(Suppl.)
. 2007; 96: 84–86.
32. Linthorst G. E., Vedder A. C., Aerts J. M., Hollak C. E. Screening 
for Fabry disease using whole blood spots fails to identify one-third 
of female carriers. 
Clin. Chim. Acta.
2005; 353: 201–203. Doi: 
10.1016/j.cccn.2004.10.019.
33. Kleijer W. J., Hussaarts-Odijk L. 
M., Sachs E. 
S., Jahoda M. 
G., 
Niermeijer M. F. Prenatal diagnosis of Fabry's disease by direct 
analysis of chorionic villi. 
Prenat. Diagn
. 1987; 7 (4): 283–287.
34. Hoffmann B., Schwarz M., Mehta A., Keshav S. Gastrointestinal 
symptoms in 342 patients with Fabry disease: prevalence and 
response to enzyme replacement therapy. 
Clin. Gastroenterol. 
Hepatol. 
2007; 5: 1447–1453. Doi: 10.1016/j.cgh.2007.08.012.
35. Anastasakis A., Papatheodorou E., Steriotis A. K. Fabry disease 
and cardiovascular involvement. 
Curr. Pharm. Des
. 2013; 
19 (33): 5997–6008.
36. Deegan P. B., Baehner A. F., Barba Romero M. A., Hughes D. A., 
Kampmann C., Beck M. European FOS Investigators. Natural 
history of Fabry disease in females in the Fabry Outcome Survey. 
J. Med. Genet
. 2006; 43: 347–352.
37. Waldek S., Patel M. R., Banikazemi M., Lemay R., Lee P. Life 
expectancy and cause of death in males and females with Fabry 
disease: findings from the Fabry Registry. 
Genet. Med.
2009; 
11: 790–796.
38. Ramaswami U., Stull D. E., Parini R., Pintos-Morell G., Whybra C., 
Kalkum G., Rohrbach M., Raluy-Callado M., Beck M., Chen W. H., 
Wiklund I. FOS Investigators. Measuring patient experiences in Fabry 
disease: validation of the Fabry-specific Pediatric Health and Pain 
Questionnaire (FPHPQ). 
Health Qual. Life Outcomes.
2012; 10: 116.
39. Palla A., Hegemann S., Widmer U., Straumann D. Vestibular 
and auditory deficits in Fabry disease and their response to enzyme 
replacement therapy. 
J. Neurol
. 2007; 254: 1433–1442.
40. Thofehrn S., Netto C., Cecchin C., Burin M., Matte U., Brusto lin S., 
Nunes A. C., Coelho J., Tsao M., Jardim L., Giugliani R., Bar ros E. J. 
Kidney function and 24-hour proteinuria in patients with Fabry 
disease during 36 months of agalsidase alfa enzyme replace ment 
therapy: a Brazilian experience. 
Ren. Fail. 
2009; 31: 773–778.
41. Tondel C., Bostad L., Larsen K. K., Hirth A., Vikse B. E., Houge G., 
Svarstad E. Agalsidase benefits renal histology in young patients 
with Fabry disease. 
J. Am. Soc. Nephrol.
2013; 24: 137–148.
42. Caballero L., Climent V., Hernandez-Romero D., Quintanilla M. A., 
de la Morena G., Marin F. Enzyme replacement therapy in Fabry 
disease: influence on cardiac manifestations. 
Curr. Med. Chem.
2010; 17: 1679–1689.
43. Rozenfeld P. A., Fritz M., Blanco P., Gonzalez P., Rinaldi G. J. 
Myocardial alterations in the murine model of Fabry disease can 
be reversed by enzyme replacement therapy. 
Can. J. Cardiol. 
2011; 27: 339–345.
44. Hoffmann B., Schwarz M., Mehta A., Keshav S. Fabry Outcome 
Survey European Investigators. Gastrointestinal symptoms in 
342 patients with Fabry disease: prevalence and response to 
enzyme replacement therapy. 
Clin. Gastroenterol. Hepatol
. 2007; 
5: 1447–1453.
45. Eng C. M., Guffon N., Wilcox W. R., Germain D. P., Lee P., Wal-
deck S., Caplan L., Linthorst G. E., Desnick R. J. Safety and efficacy 
of recombinant human 
-galactosidase A — replacement therapy 
in Fabry's disease. 


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