Published in Orphanet J Rare Dis on March 27, 2015
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet J Rare Dis (2015) 1.43
Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease. PLoS One (2016) 1.39
Pain management strategies for neuropathic pain in Fabry disease - a systematic review. BMC Neurol (2016) 1.37
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. J Med Genet (2016) 0.78
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Orphanet J Rare Dis (2016) 0.76
Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease. PLoS One (2016) 0.75
Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey. Int J Mol Sci (2017) 0.75
Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia. BMC Neurol (2015) 0.75
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. Am J Case Rep (2016) 0.75
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations. Int J Mol Sci (2016) 0.75
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. PLoS One (2016) 0.75
Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients. Front Med (Lausanne) (2017) 0.75
Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey. Int J Mol Sci (2016) 0.75
Serum Bilirubin Levels and Promoter Variations in HMOX1 and UGT1A1 Genes in Patients with Fabry Disease. Oxid Med Cell Longev (2017) 0.75
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. PLoS One (2017) 0.75
Fabry disease due to D313Y and novel GLA mutations. BMJ Open (2017) 0.75
2013 ESC guidelines on the management of stable coronary artery disease: the Task Force on the management of stable coronary artery disease of the European Society of Cardiology. Eur Heart J (2013) 9.54
Prevalence of lysosomal storage disorders. JAMA (1999) 9.06
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med (1967) 5.63
Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA (2001) 5.54
The frequency of lysosomal storage diseases in The Netherlands. Hum Genet (1999) 3.54
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet (2001) 3.45
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med (2006) 3.38
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet (2001) 3.23
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol (2007) 2.73
Fabry's disease: alpha-galactosidase deficiency. Science (1970) 2.67
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med (2003) 2.54
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int (2002) 2.15
Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol (2013) 2.11
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation (2009) 2.07
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med (2013) 1.96
A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab (2008) 1.94
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
Ageing and the glomerular filtration rate: truths and consequences. Trans Am Clin Climatol Assoc (2009) 1.53
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis (2013) 1.23
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics (2006) 1.20
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry (2008) 1.19
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet (2013) 1.19
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr (2007) 1.14
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr (2007) 1.09
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis (2014) 1.06
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One (2012) 1.04
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr (2010) 1.02
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis (2004) 0.91
Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis (2006) 0.89
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab (2014) 0.87
Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab (2014) 0.86
Fabry disease in children: agalsidase-beta enzyme replacement therapy. Clin Genet (2012) 0.86
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol (2014) 0.86
White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arq Neuropsiquiatr (2006) 0.81
Safety of agalsidase alfa in patients with Fabry disease under 7 years. Acta Paediatr (2011) 0.79
Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis (2015) 0.75