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Genetic Basis Of Cystinosis In Turkish Patients: A Single-Center Experience
(Springer, 2012)
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month ...
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 ...