Performance values in the Pompe disease case
Characteristics of Pompe disease in China: a report from the Pompe registry
... of Pompe disease, there are relatively few data describing the phenotypes, disease course, and effectiveness of management strategies and treatments for this disorder among individuals from the Asia ...
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Nutrition and exercise in Pompe disease
... From a therapeutic perspective, L-leucine supplementation also shows promise for activating mTORC1 and augmenting protein synthesis in PD patients. For example, it was recently demonstrated that the addition of ...
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A conceptual disease model for adult Pompe disease
... RHS is significantly affected by MRC sum score and FVC and better performance on these physiological variables are reflected by lower handicap scores. These findings resemble earlier results that showed that ...
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Pompe disease: what are we missing?
... of Pompe disease, of particular interest are the findings by Zimmermann and colleagues showing that in healthy subjects mitochondrial changes with reduced complex I, cytochrome c oxidase, and citrate ...
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SOL, ARGENTINA POMPE DISEASE. This is Genzyme
... We will continue to explore new ways to improve our environmental performance. R E S P O N S I B I L IT Y Our dedication to patients extends beyond the development and manufacture of products. We have initiated ...
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Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report
... of Pompe patients who died after sudden coma 9–11 revealed that the cause of death was basilar artery aneurysm, and pathology examination showed glycogen accumulation and extensive vacuolization to different ...
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Liver depot gene therapy for Pompe disease
... There are relatively fewer autopsy reports available in LOPD patients treated with ERT. In one report, postmortem histological examination revealed severe glycogen accumulation in striated muscle, as well as severe ...
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Post mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
... Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood samples following the instructions of the manufacturer (Invitrogen™; Life Technologies/ Thermo Fisher Scientific). Enzymatic fragmentation was ...
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Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease: a case report
... Treatment guidelines and a pediatric-specific policy statement are published for CDI [15, 16]. Goals of ther- apy are shared by both publications and include discon- tinuation of inciting antibiotic therapy, or narrowing ...
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Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease
... 2. Case Report Our patient was a 34-year-old woman who was diagnosed at 30 years of age with late-onset Pompe disease. Sequencing of the GAA gene (Dr. Nancy Carson, Children’s Hospital of Eastern ...
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Diagnostic tools in late onset Pompe disease (LOPD)
... Laboratory investigations Routine blood test Laboratory examination shows increased levels of muscle enzyme such as CK, LDH, AST, and ALT. HyperCKemia is often no more than five-fold from reference ranges and is usually ...
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Genotype-phenotype correlation in Pompe disease, a step forward
... to disease-free life and can be homogeneously collected also by different ...shorter disease-free life with the DD genotype fits with available data on ACE and I/D allele function: i) the DD genotype is ...
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Identification of serum microRNAs as potential biomarkers in Pompe disease
... Enzyme replacement therapy (ERT) with recombinant alpha-glucosidase has changed natural history of the dis- ease. In infantile patients, the treatment reduces the risk of death improving cardiomyopathy and respiratory ...
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Anesthesia Management in an 11-Month Old Infant with Pompe Disease
... In case of no treatment, aggravation of the disease leads to progressive hypertrophic cardiomyopathty, arrhythmia, heart failure (systolic and diastolic), chronic respiratory failure and eventually death ...
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Incidence of infantile Pompe disease in the Maroon population of French Guiana
... Europe. In the Maroon population living along the lower Maroni river, its incidence appears close to 1/2000 births (ie, more than one case per year for the regional maternity that currently has about 2500 ...
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GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD
... characterizes Pompe disease, causes mobility problems and affects the respiratory ...of Pompe disease, supported with a clinical case ...of Pompe disease are illustrated ...
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Bandt-Pompe symbolization dynamics for time series with tied values: A data-driven approach
... unambiguous rule for mapping between real valued embedded vectors X ( D ) to these symbols, permuting the ranks accord- ing to time, or permuting the time indexes according to the ranks that have the same value. Figures ...
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Progression from respiratory dysfunction to failure in late-onset Pompe disease
... The mechanism for impairment of ventilatory control in LOPD is of interest. Reduction in respiratory muscle strength could explain blunting of respiratory responsiveness. In accord with this consideration, the subjects ...
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Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
... and lactate dehydrogenase (LDH). When the levels of these three enzymes are high, while CK is not measured at the same time, one can erroneously assume a diagnosis of liver rather than muscle disease. This also ...
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Newborn Screening for Pompe Disease
... increased. Pompe disease is a good candidate for ...for Pompe disease have been inconsistent both in the United States and ...for Pompe Disease ” guidance supplement, the ...
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