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J Nephropathol. 2012 Oct;1(3):194-7. doi: 10.5812/nephropathol.8123. Epub 2012 Oct 1.
2
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
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A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.
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Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.
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Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
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[Fabry nephropathy in a female with superposed IgA glomerulonephritis].
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Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.
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引用本文的文献
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Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.
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A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.
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Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.
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Fabry disease: the many faces of a single disorder.
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6
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
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Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?
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本文引用的文献
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Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations.
Nephrol Dial Transplant. 2009 Jun;24(6):1736-43. doi: 10.1093/ndt/gfp105. Epub 2009 Mar 16.
2
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults.
Nat Clin Pract Nephrol. 2008 Jun;4(6):327-36. doi: 10.1038/ncpneph0806. Epub 2008 Apr 22.
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Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
J Am Soc Nephrol. 2007 May;18(5):1547-57. doi: 10.1681/ASN.2006080816. Epub 2007 Apr 4.
4
Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
Nephrol Dial Transplant. 2006 Feb;21(2):549-50. doi: 10.1093/ndt/gfi191. Epub 2005 Oct 12.
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Chloroquine-induced lipidosis mimicking Fabry disease.
Mod Pathol. 2005 May;18(5):733-8. doi: 10.1038/modpathol.3800344.
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Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x.
7
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Kidney Int. 2002 Dec;62(6):1933-46. doi: 10.1046/j.1523-1755.2002.00675.x.
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Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Medicine (Baltimore). 2002 Mar;81(2):122-38. doi: 10.1097/00005792-200203000-00003.
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Amiodarone pulmonary toxicity: functional and ultrastructural evaluation.
Thorax. 1986 Feb;41(2):100-5. doi: 10.1136/thx.41.2.100.
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