Published in J Neurol on August 01, 2005
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Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis (2013) 0.81
PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis (2010) 0.81
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis (2016) 0.77
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. Mol Genet Metab Rep (2015) 0.77
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The brain in late-onset glycogenosis II: a structural and functional MRI study. J Inherit Metab Dis (2013) 0.77
Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol (2014) 0.76
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. Orphanet J Rare Dis (2013) 0.76
A 62-year-old man with dyspnea. Respir Med Case Rep (2016) 0.75
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease. Mol Genet Metab Rep (2013) 0.75
Recent developments, utilization, and spending trends for pompe disease therapies. Am Health Drug Benefits (2012) 0.75
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A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease. Acta Myol (2013) 0.75
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Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis (2014) 1.44
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Fatigue: an important feature of late-onset Pompe disease. J Neurol (2007) 1.31
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Does a carpal tunnel syndrome predict an underlying disease? J Neurol Neurosurg Psychiatry (2006) 1.06
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Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis (2013) 1.04
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Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat (2010) 0.98
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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood (2010) 0.92
Perception of prognostic risk in patients with multiple sclerosis: the relationship with anxiety, depression, and disease-related distress. J Clin Epidemiol (2004) 0.92
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol Genet Metab (2005) 0.92
Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med (2011) 0.92
Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis (2011) 0.91
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The CMAP scan as a tool to monitor disease progression in ALS and PMA. Amyotroph Lateral Scler Frontotemporal Degener (2012) 0.90
Increased aortic stiffness in glycogenosis type 2 (Pompe's disease). Int J Cardiol (2006) 0.90
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis (2012) 0.90
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. Mol Genet Metab (2012) 0.90
First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease. Mol Genet Metab (2011) 0.90
Subclass IgG to motor gangliosides related to infection and clinical course in Guillain-Barré syndrome. J Neuroimmunol (2008) 0.89
The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab (2011) 0.89
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Understanding the consequences of chronic inflammatory demyelinating polyradiculoneuropathy from impairments to activity and participation restrictions and reduced quality of life: the ICE study. J Peripher Nerv Syst (2010) 0.89
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey. Mol Genet Metab (2010) 0.89
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease. Orphanet J Rare Dis (2014) 0.88
Functional polymorphisms in LPS receptors CD14 and TLR4 are not associated with disease susceptibility or Campylobacter jejuni infection in Guillain-Barré patients. J Neuroimmunol (2004) 0.88
Up to five years experience with 11 mucopolysaccharidosis type VI patients. Mol Genet Metab (2013) 0.88
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? Eur J Hum Genet (2008) 0.87
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Impaired performance of skeletal muscle in alpha-glucosidase knockout mice. Muscle Nerve (2002) 0.87