Late-onset Pompe disease: preliminary results of enzyme replacement therapy
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy and antibodies in late-onset Pompe disease
http://dx.doi.org/10.1016/j.ymgmr.2014.01.001 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND licen (http://creativecommons.org/licenses/by-nc-nd/3.0/). Patients with late-onset Pompe disease receiving enzyme replacement therapy (ERT) usually develop IgG antibodies against algucosidase alpha (anti-rhGAA) within the first 3 months. Th...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملS2.2 Enzyme replacement therapy in the infantile-onset Pompe disease
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...
متن کاملRespiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease
BACKGROUND Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in i...
متن کاملAdjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previously demonstrated the benefit of increased CI-MPR-mediated uptake of recombinant human acid-α-glucosidase during ERT in mice with Pompe disea...
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ژورنال
عنوان ژورنال: Neuromuscular Diseases
سال: 2019
ISSN: 2413-0443,2222-8721
DOI: 10.17650/2222-8721-2019-9-2-43-49