Болезнь Фабри: особенности заболевания у детей и подростков
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. 2008; 64: 550–555. Doi: 10.1203/PDR. 0b013e318183f132. 17. Hoffmann B., Beck M., Sunder-Plassmann G., Borsini W., Ricci R., Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy — a retrospective analysis from the Fabry Outcome Survey. Clin J. Pain . 2007; 23: 535–542. Doi: 10.1097/AJP.0b013e318074c986. 18. Hilz M. J., Stemper B., Kolodny E. H. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain . 2000; 84: 361–365. Doi: 10.1016/S0304-3959 (99)00236-5. 19. Brokalaki E. I., Hentschke M., Grabbe S., Jansen T. Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5. Eur. J. Med. Res . 2006; 11: 306–308. 20. Suzuki K., Miura N., Kitagawa W., Suzuki S., Komatsuda A., Nishikawa K., Watanabe D., Imai H. Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new -galactosidase mutation of Leu311Arg (L311R). Clin. Exp. Nephrol . 2011; 15: 916–920. 21. Banerjee T. K. Fabry disease with special reference to neurological manifestations. Eur. Rev. Med. Pharmacol. Sci. 2004; 8: 275–281. 22. Sestito S., Ceravolo F., Concolino D. Anderson-Fabry disease in children. Curr. Pharm. Des . 2013; 19 (33): 6037–6045. СПИСОК ЛИТЕРАТУРЫ Авторы данной статьи подтвердили отсутствие финансовой поддержки/конфликта интересов, о которых необходимо сообщить. КОНФЛИКТ ИНТЕРЕСОВ 348 Непрерывное профессиональное образование 23. Ramaswami U., Whybra C., Parini R., Pintos-Morell G., Mehta A., Sunder-Plassmann G., Widmer U., Beck M., FOS European Investi- ga tors. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006; 95: 86–92. 24. Tuttolomondo A., Duro G., Miceli S., Di Raimondo D., Pecoraro R., Serio A., Albeggiani G., Nuzzo D., Iemolo F., Pizzo F., Sciarrino S., Licata G., Pinto A. Novel alpha-galactosidase A mutation in a female with recurrent strokes. Clin. Biochem . 2012; 45: 1525–1530. 25. Rolfs A., Fazekas F., Grittner U., Dichgans M., Martus P., Hol- zhau sen M., Bottcher T., Heuschmann P. U., Tatlisumak T., Tani- slav C., Jungehulsing G. J., Giese A. K., Putaala J., Huber R., Bodech- tel U., Lichy C., Enzinger C., Schmidt R., Hennerici M. G., Kaps M., Kessler C., Lackner K., Paschke E., Meyer W., Mascher H., Riess O., Kolodny E., Norrving B. Stroke in Young Fabry Patients (sifap) Investigators. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke . 2013; 44: 34–349. 26. Warnock D. G., West M. L. Diagnosis and management of kidney involvement in Fabry disease. Adv. Chronic Kidney Dis. 2006; 13: 138–147. 27. Basic-Jukic N., Kes P., Coric M., Basic-Kes V. Renal Complica tions of Fabry Disease. Curr. Pharm. Des . 2013; 19 (33): 6046–6050. 28. Kampmann C., Wiethoff C. M., Perrot A., Beck M., Dietz R., Osterziel K. J. The heart in Anderson Fabry disease. Z. Kardiol. 2002; 91: 786–795. 29. Linhart A., Kampmann C., Zamorano J. L., Sunder-Plassmann G., Beck M., Mehta A., Elliott P. M. European FOS Investigators. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. жүктеу/скачать 103,53 Kb. Достарыңызбен бөлісу:
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