A FAMILY CASE OF FABRY DISEASE
- 作者: Ivanova R.1, Sukhomyasova A.1,2, Gurlnova E.1, Vasilyev F.2, Guryeva P.2, Gorokhova A.1, Makslmova N.2
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隶属关系:
- Center of Medical Genetics, Republican Hospital One - National Center of Medicine, Y
- M.K. Ammosov North-Eastern Federal University
- 期: 卷 28, 编号 6 (2017)
- 页面: 81-85
- 栏目: Articles
- URL: https://journals.eco-vector.com/0236-3054/article/view/117026
- ID: 117026
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作者简介
R. Ivanova
Center of Medical Genetics, Republican Hospital One - National Center of Medicine, Y
Email: ya.irr84@yandex.ru
Yakutsk
A. Sukhomyasova
Center of Medical Genetics, Republican Hospital One - National Center of Medicine, Y; M.K. Ammosov North-Eastern Federal University
Email: ya.irr84@yandex.ru
Yakutsk
E. Gurlnova
Center of Medical Genetics, Republican Hospital One - National Center of Medicine, Y
Email: ya.irr84@yandex.ru
Yakutsk
F. Vasilyev
M.K. Ammosov North-Eastern Federal University
Email: ya.irr84@yandex.ru
Yakutsk
P. Guryeva
M.K. Ammosov North-Eastern Federal University
Email: ya.irr84@yandex.ru
Yakutsk
A. Gorokhova
Center of Medical Genetics, Republican Hospital One - National Center of Medicine, Y
Email: ya.irr84@yandex.ru
Yakutsk
N. Makslmova
M.K. Ammosov North-Eastern Federal University
Email: ya.irr84@yandex.ru
Yakutsk
参考
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- Tse K., Chan K., Tin V. et al. Clinical features and genetic analysis of a Chinese kindred with Fabry's disease // Nephrol. Dial Transplant. - 2003; 18 (1): 182-6.
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- MacDermot K., Holmes A., Miners A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females // J. Med. Genet. - 2001; 38 (11): 769-75.
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- Байер Е.М., Карпова Е.А., Удалова О.В. и др. Биохимическое исследование необычных случаев болезни Фабри / М., 1996; 494-500.
- Краснопольская К.Д. Наследственные болезни обмена веществ. Справочное пособие для врачей / М.: Фохат: 2005; 364 с.
- Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению. Практическое руководство / М.: Литера, 2011; 352 с.
- Bishop D., Kornreich R., Desnick R. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3’ untranslated region // Proc. Natl. Acad. Sci. USA. - 1988; 85: 3903-7.
- Garman S., Garboczi D. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase // J. Mol. Biol. - 2004; 337: 319-35.
- The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff [Электронный ресурс]. - Режим доступа: http://www.hgmd.cf.ac.uk/ac/ index.php. - 03.02.2017.
- Germain D., Giugliani R., Hughes D. et al. Safety and pharmacodynamic effects of a pharmacological chaperone on а-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies // Orphanet. J. Rare Dis. - 2012; 7: 91.
- Aerts J., Groener J., Kuiper S. et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease // Proc. Natl. Acad. Sci. USA. - 2008; 105 (8): 2812-7.
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