Steps forward in Pompe Disease. Abstracts of the 6th European Symposium. Berlin, Germany. November 23-24, 2012.
- Published in:
- BMC Musculoskeletal Disorders, 2013, v. 14, n. Suppl 2, p. 1
- Publication type:
- Article
Works matching IS 14712474 AND DT 2013 AND VI 14 AND IP Suppl 2
Results: 36
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Pompe disease- experience from South India.
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Walking delay as leading symptom in late-onset Pompe disease.
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Description of the first two cases of Pompe disease in Bulgaria.
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Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit.
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A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function.
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7
Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age.
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8
Effects of exercise training in 23 adults with Pompe disease receiving enzyme therapy.
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9
Enzyme replacement therapy and fatigue in adults with Pompe disease.
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10
Impact of enzyme replacement therapy on survival in adults with Pompe disease.
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11
Cognitive outcome of classic infantile Pompe patients receiving enzyme therapy.
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12
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).
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13
Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?
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14
Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients.
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15
Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II.
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16
Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations.
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17
Successful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT).
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18
Pompe disease: the role of MRI.
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19
Cytokines in treated and untreated Pompe patients.
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20
Stapedius reflex testing shows altered small muscle function in untreated Pompe patients and improvement after enzyme replacement therapy.
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21
Pompe practice survey of Canadian (Ontario) rheumatologists.
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22
Spectrum of Pompe disease in childhood - The Toronto experience.
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23
Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada.
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24
Feasibility of DBS screening to identify adult patients with Pompe disease in a neuromuscular clinic population.
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25
Standards of care in neuromuscular fields.
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26
Pregnancy in Pompe disease.
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27
Rationale for adjuvant measures in musculoskeletal diseases.
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28
Alglucosidase alfa: 5 years of experience in late-onset Pompe disease.
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29
Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease.
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30
Future therapeutic options.
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31
Molecular diagnosis and next generation gene sequencing in neuromuscular clinical practice.
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32
Genotype-phenotype: correlations and emerging spectrum.
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33
Advances in imaging for the diagnosis and disease monitoring of Pompe disease.
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34
Autophagy: the pathogenic agent in muscle damage.
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35
Limitations of muscle biopsy in Pompe disease.
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36
Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness.
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- Abstract