نتایج جستجو برای: infantile pompe disease
تعداد نتایج: 1498901 فیلتر نتایج به سال:
patients identified by the neonatal screening and treated earlier than historical patients showed improved outcome in terms of motor activity and ventilatory-free survival. The immune status of PD patients has emerged as another important factor that impacts ERT efficacy. In a recent study the effects of ERT in 11 cross-reactive immunological material (CRIM) negative patients were compared with...
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disa...
Glycogen storage disease type II (GSDII)/Pompe disease is an autosomal recessive multi-system disorder due to a deficiency of the glycogen-degrading lysosomal enzyme, acid alpha-glucosidase (GAA). Without adequate levels of GAA, there is a progressive accumulation of glycogen inside the lysosome, resulting in lysosomal expansion in many tissues, although the major clinical manifestations are se...
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