К вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни Фабри
Аннотация
Болезнь Фабри (БФ) – X-сцепленное заболевание, обусловленное мутациями в гене, кодирующем лизосомальную гидролазу α-галактозидазу А, при котором происходит прогрессирующее накопление в лизосомах глоботриаозилцерамида и связанных гликосфинголипидов. У пациентов мужского пола с классическим фенотипом болезни заболевание клинически манифестирует в детском или подростковом возрасте и характеризуется несколькими симптомами, в том числе нарушением почечной функции, цереброваскулярными осложнениями, сердечной недостаточностью и в конечном счете преждевременной смертью.
Об авторах
D. G. WarnockРоссия
M. Mauer
Россия
Список литературы
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Рецензия
Для цитирования:
Warnock D.G., Mauer M. К вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни Фабри. Нервно-мышечные болезни. 2015;5(3):10-14.