Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
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The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRIPhenotypical variation within 22 families with Pompe disease.Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial.Increased aortic stiffness and blood pressure in non-classic Pompe disease.GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional surveyPompe disease: literature review and case seriesLung MRI and impairment of diaphragmatic function in Pompe disease.Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupSafety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training programA conceptual disease model for adult Pompe disease.Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.Childhood Pompe disease: clinical spectrum and genotype in 31 patients.Hypothyroidism in late-onset Pompe disease.Familial adult-onset Pompe disease associated with unusual clinical and histological features.Treatment of lysosomal storage disorders: successes and challenges.Sphingolipid lysosomal storage disorders.Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.Bent spine syndrome as the initial symptom of late-onset Pompe disease.European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.Clinical features of Pompe diseasePompe disease in Austria: clinical, genetic and epidemiological aspects.Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.Comparison of EQ-5D and SF-6D utilities in Pompe disease.Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.Follow-up analysis of voice quality in patients with late-onset Pompe disease
P2860
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P2860
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
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2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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type
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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Clinical features and predicto ...... rospective observational study
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P2093
P2860
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Clinical features and predicto ...... rospective observational study
@en
P2093
Anneke J van der Kooi
Ans T van der Ploeg
Arnold J J Reuser
Baziel G M van Engelen
Jan B M Kuks
Jan J G M Verschuuren
John H J Wokke
Juna M de Vries
Karin G Faber
Marian A Kroos
P2860
P2888
P3181
P356
10.1186/1750-1172-7-88
P407
P577
2012-01-01T00:00:00Z
P5875
P6179
1051764788