Published in JIMD Rep on September 16, 2014
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No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene. Mol Genet Metab (2012) 0.89
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Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation (2007) 2.15
Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol (2013) 2.11
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Chronically infused intrathecal morphine in dogs. Anesthesiology (2003) 1.93
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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med (2011) 1.89
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Human Stiff person syndrome IgG-containing high-titer anti-GAD65 autoantibodies induce motor dysfunction in rats. Exp Neurol (2012) 1.81
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TNF-α in CRPS and 'normal' trauma--significant differences between tissue and serum. Pain (2010) 1.74
Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol (2006) 1.71
Congenital veno-venous malformations of the liver: widely variable clinical presentations. J Gastroenterol Hepatol (2007) 1.68
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation (2011) 1.65
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Reduced levels of antiinflammatory cytokines in patients with chronic widespread pain. Arthritis Rheum (2006) 1.64
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet (2007) 1.63
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
Functional and structural nerve fiber findings in heterozygote patients with Fabry disease. Pain (2009) 1.62
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Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease. Heart (2012) 1.56
Effect of combined systolic and diastolic functional parameter assessment for differentiation of cardiac amyloidosis from other causes of concentric left ventricular hypertrophy. Circ Cardiovasc Imaging (2013) 1.54
'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases. Arch Dis Child (2010) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One (2007) 1.54
Echocardiographic evaluation of systolic and diastolic function in patients with cardiac amyloidosis. Am J Cardiol (2011) 1.53
Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis (2008) 1.53
Local cytokine changes in complex regional pain syndrome type I (CRPS I) resolve after 6 months. Pain (2013) 1.52
Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron (2014) 1.50
Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program. J Pediatr (2012) 1.46
Echocardiographic quantification of regional deformation helps to distinguish isolated left ventricular non-compaction from dilated cardiomyopathy. Eur J Heart Fail (2012) 1.45
Preeclampsia and prevalence of microalbuminuria 10 years later. Clin J Am Soc Nephrol (2013) 1.45
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Tei index in fabry disease. J Am Soc Echocardiogr (2011) 1.44
Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease. Hepatology (2011) 1.43
Patients with Fabry disease on dialysis in the United States. Kidney Int (2002) 1.42
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia. J Pediatr (2011) 1.42
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain (2008) 1.41
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[A man in his fifties with fever, cough and anuria]. Tidsskr Nor Laegeforen (2012) 1.40
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A key role for gp130 expressed on peripheral sensory nerves in pathological pain. J Neurosci (2009) 1.37
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta (2010) 1.35
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A (2013) 1.34
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr (2003) 1.32
Glypican-3 expression distinguishes small hepatocellular carcinomas from cirrhosis, dysplastic nodules, and focal nodular hyperplasia-like nodules. Am J Surg Pathol (2006) 1.32
Selective increase of tumour necrosis factor-alpha in injured and spared myelinated primary afferents after chronic constrictive injury of rat sciatic nerve. Eur J Neurosci (2003) 1.32
Monocytes/macrophages prevent healing defects and left ventricular thrombus formation after myocardial infarction. FASEB J (2012) 1.31
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Activation of TRPV1 contributes to morphine tolerance: involvement of the mitogen-activated protein kinase signaling pathway. J Neurosci (2008) 1.31
T cell infiltration after chronic constriction injury of mouse sciatic nerve is associated with interleukin-17 expression. Exp Neurol (2006) 1.30
Systematic review with meta-analysis: cytokines in fibromyalgia syndrome. BMC Musculoskelet Disord (2011) 1.30
Peripheral bile duct paucity and cholestasis in the liver of a patient with Alagille syndrome: further evidence supporting a lack of postnatal bile duct branching and elongation. Am J Surg Pathol (2005) 1.29
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
Living with classical galactosemia: health-related quality of life consequences. Pediatrics (2004) 1.26
Mode of action of cytokines on nociceptive neurons. Exp Brain Res (2009) 1.26
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis (2011) 1.25
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int (2010) 1.25
Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) (2011) 1.24
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol (2010) 1.24
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis (2013) 1.23
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant (2011) 1.23