Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
出版年份 2013 全文链接
标题
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
作者
关键词
Pompe disease, Glycogen storage disease type II, Enzyme replacement therapy, rhGAA, Alglucosidase alfa, Myozyme, Skeletal muscle, Pathology, Autophagy, Genetic diseases
出版物
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 90
出版商
Springer Nature
发表日期
2013-06-21
DOI
10.1186/1750-1172-8-90
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
- (2012) Suhrad G. Banugaria et al. GENETICS IN MEDICINE
- Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
- (2012) Yoav H. Messinger et al. GENETICS IN MEDICINE
- The emerging phenotype of long-term survivors with infantile Pompe disease
- (2012) Sean N. Prater et al. GENETICS IN MEDICINE
- Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice
- (2012) John A. Maga et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes
- (2012) Petra Tiels et al. NATURE BIOTECHNOLOGY
- The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
- (2011) Suhrad G. Banugaria et al. GENETICS IN MEDICINE
- Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
- (2011) C. M. van Gelder et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Atypical immunologic response in a patient with CRIM-negative Pompe disease
- (2011) Mary-Alice Abbott et al. MOLECULAR GENETICS AND METABOLISM
- Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
- (2011) Rie S. Tsuburaya et al. NEUROMUSCULAR DISORDERS
- Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
- (2010) Nina Raben et al. MOLECULAR GENETICS AND METABOLISM
- Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
- (2009) Marc Nicolino et al. GENETICS IN MEDICINE
- Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
- (2009) Yunxiang Zhu et al. MOLECULAR THERAPY
- Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?
- (2009) A. Pichiecchio et al. MUSCLE & NERVE
- Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease
- (2009) Priya S Kishnani et al. PEDIATRIC RESEARCH
- Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
- (2009) Y.-H. Chien et al. PEDIATRICS
- Enzyme replacement therapy in severe adult-onset glycogen storage disease type II
- (2008) Sabrina Ravaglia et al. ADVANCES IN THERAPY
- Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program
- (2008) Y.-H. Chien et al. PEDIATRICS
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