Literatürler
- Genetic Basis of Cystinosis in Turkish Patients: A Single Center Experience
- Dedifferentiation and Aberrations of the Endolysosomal Compartment Characterize the Early Stage of Nephropathic Cystinosis
- Clinical utility gene card for: Cystinosis
- Mechanism of Proton/Substrate Coupling in the Heptahelical Lysosomal Transporter Cystinosin
- Cystinosis: Practical Tools for Diagnosis and Treatment
- Sedoheptulokinase Deficiency due to a 57-kb Deletion in Cystinosis Patients Causes Urinary Accumulation of Sedoheptulose: Elucidation of the CARKL Gene
- Molecular Pathogenesis of Cystinosis: Effect of CTNS Mutations on the Transport Activity and Subcellular Localization of Cystinosin
- Cystinosin, the Protein Defective in Cystinosis, is a H(+)-Driven Lysosomal Cystine Transporter
- Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay
- A Novel Gene Encoding an Integral Membrane Protein is Mutated in Nephropathic Cystinosis