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Toplam kayıt 5, listelenen: 1-5
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 ...
Disparities In Treatment Rates Of Paediatric End-Stage Renal Disease Across Europe: Insights From The Espn/Era-Edta Registry
(Oxford Univ Press, 2015)
Background. Considerable disparities exist in the provision of paediatric renal replacement therapy (RRT) across Europe. This study aims to determine whether these disparities arise from geographical differences in the ...
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
(Amer Soc Nephrology, 2017)
Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis ...
Nephropathic Cystinosis: An International Consensus Document
(Oxford Univ Press, 2014)
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. ...
Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd
(Amer Soc Nephrology, 2014)
Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ...