Published in Neuromuscul Disord on December 11, 2008
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol (2009) 1.90
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Pompe disease gene therapy. Hum Mol Genet (2011) 1.39
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis (2012) 1.17
Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve (2011) 1.05
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis (2012) 1.03
The clinical relevance of outcomes used in late-onset Pompe disease: can we do better? Orphanet J Rare Dis (2013) 0.93
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol (2013) 0.89
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis (2014) 0.88
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Unintended effects of orphan product designation for rare neurological diseases. Ann Neurol (2012) 0.87
Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr (2012) 0.86
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Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study. Eur J Pediatr (2014) 0.79
Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis (2016) 0.77
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A 62-year-old man with dyspnea. Respir Med Case Rep (2016) 0.75
Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease. Acta Neuropathol Commun (2015) 0.75
A conceptual disease model for adult Pompe disease. Orphanet J Rare Dis (2015) 0.75
Familial Pompe Disease. Med Arch (2015) 0.75
Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease. J Clin Sleep Med (2016) 0.75
Mitochondrial Copy Number and D-Loop Variants in Pompe Patients. Cell J (2016) 0.75
Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease. Int J Mol Sci (2016) 0.75
Polymyositis: an overdiagnosed entity. Neurology (2003) 4.36
Laparoscopic adhesiolysis in patients with chronic abdominal pain: a blinded randomised controlled multi-centre trial. Lancet (2003) 4.03
Prospective study on the relationship between infections and multiple sclerosis exacerbations. Brain (2002) 2.89
Pain in Guillain-Barre syndrome: a long-term follow-up study. Neurology (2010) 2.29
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain (2005) 2.25
Scoring the proliferative activity of haemangioma of infancy: the Haemangioma Activity Score (HAS). Clin Exp Dermatol (2011) 2.19
Physical activity and the association with sporadic ALS. Neurology (2005) 1.89
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology (2008) 1.86
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet (2000) 1.84
Autogenous radial-cephalic or prosthetic brachial-antecubital forearm loop AVF in patients with compromised vessels? A randomized, multicenter study of the patency of primary hemodialysis access. J Vasc Surg (2005) 1.71
Randomized clinical trial of the impact of early enteral feeding on postoperative ileus and recovery. Br J Surg (2007) 1.69
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord (2010) 1.62
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology (2007) 1.61
Sexual differences in onset of disease and response to exercise in a transgenic model of ALS. Neuromuscul Disord (2003) 1.55
Fumarates vs. methotrexate in moderate to severe chronic plaque psoriasis: a multicentre prospective randomized controlled clinical trial. Br J Dermatol (2011) 1.50
Inclusion of the transcervical approach in the video-assisted thoracoscopic extended thymectomy (BATET) for myasthenia gravis: a prospective trial. Surg Endosc (2007) 1.50
Structure of Campylobacter jejuni lipopolysaccharides determines antiganglioside specificity and clinical features of Guillain-Barré and Miller Fisher patients. Infect Immun (2002) 1.48
Diagnostic and classification criteria for the Guillain-Barré syndrome. Eur Neurol (2001) 1.47
Efficacy of fluticasone on cough: a randomised controlled trial. Eur Respir J (2005) 1.47
Association between apolipoprotein-epsilon4 and long-term outcome after traumatic brain injury. J Neurol Neurosurg Psychiatry (2007) 1.45
COLOR II. A randomized clinical trial comparing laparoscopic and open surgery for rectal cancer. Dan Med Bull (2009) 1.45
Randomized clinical trial of non-mesh versus mesh repair of primary inguinal hernia. Br J Surg (2002) 1.44
Ultrasonography shows extensive nerve enlargements in multifocal motor neuropathy. Neurology (2005) 1.43
[Aggression towards paediatricians and trainee paediatricians in the Netherlands]. Ned Tijdschr Geneeskd (2005) 1.39
High-normal thyroid function and risk of atrial fibrillation: the Rotterdam study. Arch Intern Med (2008) 1.39
Reduction, regrowth, and de novo formation of abdominal adhesions after laparoscopic adhesiolysis: a prospective analysis. Dig Surg (2004) 1.39
Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology (2004) 1.37
Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology (2005) 1.35
Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant (2003) 1.34
Self reported stressful life events and exacerbations in multiple sclerosis: prospective study. BMJ (2003) 1.32
Progression of lung disease on computed tomography and pulmonary function tests in children and adults with cystic fibrosis. Thorax (2005) 1.31
Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology (2005) 1.26
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis (2001) 1.25
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J (1990) 1.24
Diagnostic value of high-resolution sonography in ulnar neuropathy at the elbow. Neurology (2004) 1.23
Ulnar neuropathy at the elbow: follow-up and prognostic factors determining outcome. Neurology (2004) 1.22
Long-term outcome in polymyositis and dermatomyositis. Ann Rheum Dis (2006) 1.22
Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain (2003) 1.22
Prognostic factors for survival in patients with advanced oesophageal cancer treated with cisplatin-based combination chemotherapy. Br J Cancer (2003) 1.22
Quality of life measurement in patients with transfusion-dependent myelodysplastic syndromes. Br J Haematol (2003) 1.20
Clinical significance of flowcytometric minimal residual disease detection in pediatric acute myeloid leukemia patients treated according to the DCOG ANLL97/MRC AML12 protocol. Leukemia (2010) 1.16
Transanal endoscopic microsurgery is superior to transanal excision of rectal adenomas. Colorectal Dis (2010) 1.15
Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry (2002) 1.14
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology (2005) 1.14
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab (2011) 1.14
Mild forms of Guillain-Barré syndrome in an epidemiologic survey in The Netherlands. Neurology (2000) 1.14
Lifetime occupation, education, smoking, and risk of ALS. Neurology (2007) 1.12
Impact of hospital case volume on short-term outcome after laparoscopic operation for colonic cancer. Surg Endosc (2005) 1.12
Trends and determinants of end-of-life practices in ALS in the Netherlands. Neurology (2009) 1.11
Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy. J Neurol (2003) 1.11
Demyelination and axonal loss in multifocal motor neuropathy: distribution and relation to weakness. Brain (2003) 1.10
Multifocal motor neuropathy: long-term clinical and electrophysiological assessment of intravenous immunoglobulin maintenance treatment. Brain (2002) 1.10
Feasibility of a restrictive red-cell transfusion policy for patients treated with intensive chemotherapy for acute myeloid leukaemia. Transfus Med (2004) 1.10
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet (1999) 1.10
Glycogenosis type II (acid maltase deficiency). Muscle Nerve Suppl (1995) 1.09
The use of mesh in acute hernia: frequency and outcome in 99 cases. Hernia (2011) 1.08
Smoking affects the outcome of transanal mucosal advancement flap repair of trans-sphincteric fistulas. Br J Surg (2003) 1.06
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain (1997) 1.05
A randomized trial investigating an exercise program to prevent reduction of bone mineral density and impairment of motor performance during treatment for childhood acute lymphoblastic leukemia. Pediatr Blood Cancer (2009) 1.05
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord (2008) 1.04
Risk factors for chronic lung disease and mortality in newborns with congenital diaphragmatic hernia. Neonatology (2010) 1.04
Infections and course of disease in mild forms of Guillain-Barré syndrome. Neurology (2002) 1.03
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis (2011) 1.03
Riluzole serum concentrations in patients with ALS: associations with side effects and symptoms. Neurology (2003) 1.01
Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options. Biochim Biophys Acta (2011) 1.01
Acute stress response in children with meningococcal sepsis: important differences in the growth hormone/insulin-like growth factor I axis between nonsurvivors and survivors. J Clin Endocrinol Metab (2002) 1.01
Transfusion policy after severe postpartum haemorrhage: a randomised non-inferiority trial. BJOG (2014) 1.00
The prognostic influence of neuroendocrine differentiation in breast cancer: results of a long-term follow-up study. Breast (2004) 0.99
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology (2007) 0.98
Comparing Global Initiative for Asthma (GINA) criteria with the Childhood Asthma Control Test (C-ACT) and Asthma Control Test (ACT). Eur Respir J (2011) 0.98
Rapidly progressive, predominantly motor Guillain-Barré syndrome with anti-GalNAc-GD1a antibodies. Neurology (1999) 0.98
Comparison of maximal voluntary isometric contraction and hand-held dynamometry in measuring muscle strength of patients with progressive lower motor neuron syndrome. Neuromuscul Disord (2003) 0.98
Binocular saccadic eye movements in multiple sclerosis. J Neurol Sci (1997) 0.97
Pharmacokinetics and metabolism of oral midazolam in preterm infants. Br J Clin Pharmacol (2002) 0.96
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum Mol Genet (1998) 0.96
Intake of polyunsaturated fatty acids and vitamin E reduces the risk of developing amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2006) 0.96
Dialysis fistulae patency and preoperative diameter ultrasound measurements. Eur J Vasc Endovasc Surg (2006) 0.95
Extension of the clinical spectrum of Danon disease. Neurology (2008) 0.95
Ovariectomy and 17beta-estradiol modulate disease progression of a mouse model of ALS. Brain Res (2004) 0.95
Age- and therapy-related effects on morphine requirements and plasma concentrations of morphine and its metabolites in postoperative infants. Br J Anaesth (2003) 0.94
Is cardiovascular disease a risk factor in the development of axonal polyneuropathy? J Neurol Neurosurg Psychiatry (2002) 0.94
Complications and feasibility of laparoscopic adhesiolysis in patients with chronic abdominal pain. A retrospective study. Surg Endosc (2002) 0.94
Axon loss is an important determinant of weakness in multifocal motor neuropathy. J Neurol Neurosurg Psychiatry (2006) 0.93
Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord (2007) 0.93