Results 151 to 160 of about 6,399 (205)

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

open access: yesNew England Journal of Medicine, 2009
Background: Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis.
Dorothy Thompson   +2 more
exaly   +3 more sources

Mitochondrial Dysfunction in Diabetic Tubulopathy

open access: yesMetabolism: Clinical and Experimental, 2022
Diabetic kidney disease (DKD) is a devastating microvascular complication associated with diabetes mellitus. Recently, the major focus of glomerular lesions of DKD has partly shifted to diabetic tubulopathy because of renal insufficiency and prognosis of patients is closely related to tubular atrophy and interstitial fibrosis.
Zhangsuo Liu, Xianhui Liang
exaly   +3 more sources

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