Количественная и качественная характеристика сульфатированных гликозаминогликанов мочи при мукополисахаридозах и сахарном диабете
Диссертация
Группа — пациенты с лизосомными болезнями накопления в возрасте от 2 до 40 лет: 8 больных мукополисахаридозами и 4 больных болезнью Гоше. Диагноз верифицирован на основании результатов клинического обследования, данных биохимического скрининга и энзимодиагностики. Характерными клиническими проявлениями мукополисахаридозов были лицевые дис-морфии (запавшая переносица, густые брови, вывернутые… Читать ещё >
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