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Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
Patients with Mutations in Nphs2 (Podocin) Do not Respond To Standard Steroid Treatment of Nephrotic Syndrome
(Amer Soc Nephrology, 2004)
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the ...
Prevalence of Wt1 Mutations in A Large Cohort of Patients with Steroid-Resistant and Steroid-Sensitive Nephrotic Syndrome
(Elsevier Science Inc, 2004)
Background. Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant nephrotic syndrome (SRNS) is defined by primary resistance to standard steroid ...