Published in Medicine (Baltimore) on March 01, 2002
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Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. PLoS One (2015) 0.93
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain (2006) 0.92
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Amiloride as an Alternate Adjuvant Antiproteinuric Agent in Fabry Disease: The Potential Roles of Plasmin and uPAR. Case Rep Nephrol (2014) 0.91
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Living donor kidney transplantation in patients with hereditary nephropathies. Nat Rev Nephrol (2010) 0.82
Anderson-Fabry disease in Austria. Wien Klin Wochenschr (2003) 0.82
Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol (2008) 0.81
Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatr Nephrol (2004) 0.81
Fabry disease: a survey of visual and ocular symptoms. Clin Ophthalmol (2014) 0.80
A case of minimal change disease in a Fabry patient. Pediatr Nephrol (2009) 0.79
Kidney histologic alterations in α-Galactosidase-deficient mice. Virchows Arch (2011) 0.79
Treat the patient not the lab value. NDT Plus (2009) 0.78
Urine bikunin as a marker of renal impairment in Fabry's disease. Biomed Res Int (2013) 0.78
Embolic Strokes of Unknown Source and Cryptogenic Stroke: Implications in Clinical Practice. Front Neurol (2016) 0.78
Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy. PLoS One (2015) 0.77
Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells. J Lipid Res (2010) 0.77
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. J Inherit Metab Dis (2015) 0.77
Fabry disease and nephrogenic diabetes insipidus. Pediatr Nephrol (2006) 0.77
Taming molecular flexibility to tackle rare diseases. Biochimie (2015) 0.77
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Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review. BMJ Case Rep (2012) 0.75
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Development of a model system for neuronal dysfunction in Fabry disease. Mol Genet Metab (2016) 0.75
Hypertension in adult Fabry's disease: is cardiotrophin-1 a diagnostic biomarker? Immun Ageing (2014) 0.75
Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease. BMC Nephrol (2012) 0.75
Unusual renal presentation of Fabry disease in a female patient. Nat Rev Nephrol (2009) 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
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease. Mol Genet Metab Rep (2014) 0.75
Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease. Korean Circ J (2017) 0.75
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Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. Oncotarget (2017) 0.75
Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science (2010) 16.00
VEGF inhibition and renal thrombotic microangiopathy. N Engl J Med (2008) 9.87
The classification of glomerulonephritis in systemic lupus erythematosus revisited. J Am Soc Nephrol (2004) 7.38
APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med (2013) 5.00
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum (2002) 4.98
The classification of glomerulonephritis in systemic lupus erythematosus revisited. Kidney Int (2004) 4.77
The Notch pathway in podocytes plays a role in the development of glomerular disease. Nat Med (2008) 3.76
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science (2003) 3.61
Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Kidney Int (2009) 3.58
Apolipoprotein L1 gene variants associate with hypertension-attributed nephropathy and the rate of kidney function decline in African Americans. Kidney Int (2012) 3.46
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet (2007) 3.43
A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases. Clin J Am Soc Nephrol (2007) 3.23
The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol (2010) 3.15
Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Nephrol Dial Transplant (2009) 2.88
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87
Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet (2006) 2.83
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United States. Am J Kidney Dis (2004) 2.51
Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15. Hum Mol Genet (2010) 2.51
Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab (2004) 2.46
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet (2013) 2.42
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol (2012) 2.33
Missed dialysis sessions and hospitalization in hemodialysis patients after Hurricane Katrina. Kidney Int (2009) 2.31
Fabry disease in childhood. J Pediatr (2004) 2.20
Podocytes use FcRn to clear IgG from the glomerular basement membrane. Proc Natl Acad Sci U S A (2008) 2.12
A short course of BG9588 (anti-CD40 ligand antibody) improves serologic activity and decreases hematuria in patients with proliferative lupus glomerulonephritis. Arthritis Rheum (2003) 2.11
African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. Hum Mol Genet (2010) 2.11
Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells. Immunity (2010) 2.09
Transfusion-associated GVHD after fludarabine therapy in a patient with systemic lupus erythematosus. Transfusion (2003) 2.05
Pirfenidone for diabetic nephropathy. J Am Soc Nephrol (2011) 2.04
Randomized, controlled trial of prednisone, cyclophosphamide, and cyclosporine in lupus membranous nephropathy. J Am Soc Nephrol (2009) 2.03
Trends in the epidemiology of focal segmental glomerulosclerosis. Semin Nephrol (2003) 1.97
Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch (2007) 1.91
Inducible podocyte-specific gene expression in transgenic mice. J Am Soc Nephrol (2003) 1.87
Tocilizumab in systemic lupus erythematosus: data on safety, preliminary efficacy, and impact on circulating plasma cells from an open-label phase I dosage-escalation study. Arthritis Rheum (2010) 1.86
Urinary exosomal transcription factors, a new class of biomarkers for renal disease. Kidney Int (2008) 1.86
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant (2005) 1.84
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest (2011) 1.81
Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study. Am J Nephrol (2009) 1.80
Pirfenidone slows renal function decline in patients with focal segmental glomerulosclerosis. Clin J Am Soc Nephrol (2007) 1.80
HIV-associated nephropathy patients with and without apolipoprotein L1 gene variants have similar clinical and pathological characteristics. Kidney Int (2012) 1.79
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr (2003) 1.75
Rapid isolation of urinary exosomal biomarkers using a nanomembrane ultrafiltration concentrator. Am J Physiol Renal Physiol (2007) 1.72
Physiological characterization of neuropathy in Fabry's disease. Muscle Nerve (2002) 1.70
Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach. Kidney Int (2013) 1.69
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood (2011) 1.68
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.67
Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology (2005) 1.66
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol (2002) 1.60
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol (2007) 1.59
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis (2012) 1.58
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A (2003) 1.57
Differential effects of MYH9 and APOL1 risk variants on FRMD3 Association with Diabetic ESRD in African Americans. PLoS Genet (2011) 1.57
miR-150 promotes renal fibrosis in lupus nephritis by downregulating SOCS1. J Am Soc Nephrol (2013) 1.57
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3). Mol Genet Metab (2009) 1.56
Human podocytes perform polarized, caveolae-dependent albumin endocytosis. Am J Physiol Renal Physiol (2014) 1.54
Connective tissue growth factor expressed in tubular epithelium plays a pivotal role in renal fibrogenesis. J Am Soc Nephrol (2004) 1.53
Mice lacking the p53-effector gene Gadd45a develop a lupus-like syndrome. Immunity (2002) 1.53
Chronic kidney disease worsens sepsis and sepsis-induced acute kidney injury by releasing High Mobility Group Box Protein-1. Kidney Int (2011) 1.52
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve (2003) 1.51
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. BMC Neurol (2008) 1.51
Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol (2008) 1.51
Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note. J Neurosurg (2007) 1.51
Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy. Arch Pathol Lab Med (2009) 1.49
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol (2013) 1.49
A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis. J Clin Invest (2016) 1.48
Epidermal growth factor receptor promotes glomerular injury and renal failure in rapidly progressive crescentic glomerulonephritis. Nat Med (2011) 1.46
De novo expression of podocyte proteins in parietal epithelial cells during experimental glomerular disease. Am J Physiol Renal Physiol (2009) 1.45
Advanced glycation end-products induce tubular CTGF via TGF-beta-independent Smad3 signaling. J Am Soc Nephrol (2009) 1.45
Pathogenesis and treatment of HIV-associated renal diseases: lessons from clinical and animal studies, molecular pathologic correlations, and genetic investigations. Ann Intern Med (2003) 1.44
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol (2003) 1.44
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Pediatric Fabry disease. Pediatrics (2005) 1.43
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. AJNR Am J Neuroradiol (2002) 1.42
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J (2010) 1.42
Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet (2003) 1.41
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood (2011) 1.41
Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol (2009) 1.40
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.38
Overexpression of VEGF-A in podocytes of adult mice causes glomerular disease. Kidney Int (2010) 1.38
NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol (2007) 1.36
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord (2007) 1.35
Cyclin-dependent kinase 5 activity regulates pain signaling. Proc Natl Acad Sci U S A (2006) 1.34
Renal pathology in Fabry disease. J Am Soc Nephrol (2002) 1.34
Lack of A1 adenosine receptors augments diabetic hyperfiltration and glomerular injury. J Am Soc Nephrol (2008) 1.32
Cyclin-dependent kinase 5 modulates nociceptive signaling through direct phosphorylation of transient receptor potential vanilloid 1. Proc Natl Acad Sci U S A (2006) 1.31
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol (2005) 1.30
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood (2010) 1.30
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Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
New prospects for the treatment of lysosomal storage diseases. Drugs (2002) 1.26