Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report
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چکیده
منابع مشابه
Headache: A Presentation of Pompe Disease; A Case Report
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...
متن کاملA Case of Early Infantile Pompe Disease with Atypical Manifestation.
Pompe disease is a rare autosomal recessive lysosomal storage disease caused by defi ciency of acid α-glucosidase (GAA). This defi ciency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage, and organ dysfunction. In early onset patients (the classic infantile form), this glycogen accumulation leads to death, usually before the age of 1 year. Some p...
متن کاملLate-onset Pompe Disease with Elevated Liver Transaminases: A Case Report
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
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Abstract The prevalence of mandibular fracture is relatively lower in the pediatric population compared to adults. The treatment of these fractures is more challenging for oral and maxillofacial surgeons due to the concerns regarding mandible growth and the presence of developing tooth buds. According to the literature, conventional methods (e.g., soft diets or closed red...
متن کاملinfantile-onset pompe disease
how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf. refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...
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ژورنال
عنوان ژورنال: Journal of Shahrekord University of Medical Sciences
سال: 2019
ISSN: 1735-1448,2228-7469
DOI: 10.34172/jsums.2019.26