نتایج جستجو برای: pompe
تعداد نتایج: 1229 فیلتر نتایج به سال:
Significant advances in therapy for lysosomal storage disorders have occurred with an accelerating pace over the past decade. Although enzyme replacement therapy has improved the outcome of lysosomal storage disorders, antibody responses have occurred and sometimes prevented efficacy, especially in cross-reacting immune material negative patients with Pompe disease. Preclinical gene therapy exp...
Pompe disease is a lysosomal storage disorder characterized by muscle weakness and cardiomyopathy. It shows a broad variability regarding the clinical severity as well as the age of onset. In the past, two different recombinant enzyme preparations have been developed for the treatment of Pompe patients: alpha-glucosidase, produced in rabbit milk, and alpha-glucosidase, produced in Chinese hamst...
A 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...
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles are implicated in most of the LSDs. The diseases are typically classified into 2 to 3 different clinical types according to severity. Moreover, molecular characterization of the ...
members of the third generation of a late-onset Pompe disease family which counts 36 individuals. Clinical, laboratory, and GAA enzymatic and genetic studies disclosed widespread myalgias and low back pain as well as mild weakness of the pelvic girdle muscles in 5 individuals (3 females, 2 males; aged 24–30 years), 3 of whom had a slight increase in CPK. Symptom onset was during the second deca...
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that is typically fatal by 1-2years of age to a more slowly progressive course that causes significant morbidity and early mortality in children ...
Side-alternating vibration training (SAVT) was used for 15 weeks in a patient with Late-onset Pompe disease who had never used enzyme replacement or chaperone therapy. Prior to the use of SAVT, the patient had experienced declining muscle performance and her 6-minute walk distance decreased from 210 to 155 metres in 6 months. After SAVT, her 6-minute walk distance increased 70% from 166 to 282 ...
This study is a non-interventional correlation study. Two groups (n = 40), consisting of 20 LOPD patients and 20 healthy age-matched (HAM), individuals will have their gait patterns assessed by instrumented gait analysis (Qualisys OQUS). The aim of the study is to identify the differences in gait between LOPD patients and HAM individuals. The LOPD group will be recruited from the Mark Holland m...
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