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Toplam kayıt 3, listelenen: 1-3
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 ...
Vasculitis: Do We Know More To Classify Better?
(Springer, 2015)
The systemic vasculitides are a heterogeneous group of disorders characterized by the inflammation of blood vessels. The development and implementation of advanced diagnostic tests and genetic studies have resulted in ...