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Coq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
(Amer Soc Clinical Investigation Inc, 2011)
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and ...
Disruption of Ptpro Causes Childhood-Onset Nephrotic Syndrome
(Cell Press, 2011)
Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant ...
Respiratory-Chain Deficiency Presenting As Diffuse Mesangial Sclerosis with Nphs3 Mutation
(Springer, 2011)
Renal manifestations of mitochondrial cytopathies have been described, but nephrotic syndrome with respiratory-chain disorders have been described extremely rarely. We report a 9-month-old boy with a mitochondrial cytopathy ...
Myo1E Mutations And Childhood Familial Focal Segmental Glomerulosclerosis
(Massachusetts Medical Soc, 2011)
BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of ...