Published in BMC Med Genet on February 01, 2010
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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. Mol Genet Metab (2014) 0.90
Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene. PLoS One (2013) 0.90
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease. JIMD Rep (2012) 0.89
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Descriptive epidemiology of Fabry disease among beneficiaries of the Specified Disease Treatment Research Program in Japan. J Epidemiol (2012) 0.75
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Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients. Front Med (Lausanne) (2017) 0.75
A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy. PLoS One (2011) 0.75
Fabry disease due to D313Y and novel GLA mutations. BMJ Open (2017) 0.75
Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study. J Biomed Res (2016) 0.75
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An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med (1995) 3.42
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An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med (1991) 2.27
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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet (1993) 1.83
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Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol (1990) 1.62
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol (2004) 1.53
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation (2006) 1.51
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Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl (2006) 1.30
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat (2005) 1.10
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A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant (2006) 0.98
A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kidney Dis (1995) 0.89
Angiokeratomas of Fabry successfully treated with intense pulsed light. J Cosmet Laser Ther (2008) 0.84
Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease. Semin Nephrol (2004) 0.83
Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol (1995) 0.83
Efficacy of peritoneal ultrafiltration in the treatment of refractory congestive heart failure. Nephrol Dial Transplant (2009) 1.01
Stereoselective VO(acac)(2) Catalyzed Epoxidation of Acyclic Homoallylic Diols. Complementary Preparation of C2-syn-3,4-Epoxy Alcohols. Tetrahedron (2011) 0.96
Incidence of and risk factors for insulin resistance in treatment-naive HIV-infected patients 48 weeks after starting highly active antiretroviral therapy. Antivir Ther (2006) 0.92
Frequency of visceral leishmaniasis relapses in human immunodeficiency virus-infected patients receiving highly active antiretroviral therapy. Am J Trop Med Hyg (2004) 0.87
Treatment of hyperphosphatemia with sevelamer hydrochloride in hemodialysis patients: a comparison with calcium acetate. Kidney Int Suppl (2003) 0.86
Cutaneous cryptococcosis in a patient on chronic haemodialysis. Nefrologia (2012) 0.83
Incidence of liver damage of uncertain origin in HIV patients not co-infected with HCV/HBV. PLoS One (2013) 0.83
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease. Eur J Echocardiogr (2011) 0.81
Prevalence of Fabry's disease within hemodialysis patients in Spain. Clin Nephrol (2014) 0.79
Impact of antiretroviral therapy on the variability of the HCV NS5B polymerase in HIV/HCV co-infected patients. J Antimicrob Chemother (2011) 0.79
Hematocrit, urea and gender: the Hematocrit, Urea and GEnder formula for prognosing progressive renal failure in diabetic nephropathy. Eur J Intern Med (2011) 0.77
Genetic variability at the TREX1 locus is not associated with natural resistance to HIV-1 infection. AIDS (2012) 0.76
Successful reconstruction of nongrowing hemifacial microsomia patients with unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. J Oral Maxillofac Surg (2012) 0.76
Synthesis of stereotetrads by regioselective cleavage of diastereomeric MEM-protected 2-methyl-3,4-epoxy alcohols with diethylpropynyl aluminum. Synlett (2012) 0.75
Symmetrical Ambulatory Arterial Stiffness Index: relationship with serum cystatin C levels. Ren Fail (2011) 0.75
Inhibition of functionalized 1,3-dienes against Trypanosoma cruzi. Z Naturforsch C (2005) 0.75
Verapamil reverts acute renal functional impairment induced by angiotensin II converting enzyme inhibitors. Ren Fail (2003) 0.75
No influence of antiretroviral therapy on the mutation rate of the HCV NS5B polymerase in HIV/HCV-coinfected patients. Antiviral Res (2012) 0.75
Endoplasmic reticulum aminopeptidase 2 haplotypes play a role in modulating susceptibility to HIV infection. AIDS (2013) 0.75
Haemorrhagic cellulitis caused by Salmonella enteritidis. Scand J Infect Dis (2005) 0.75