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Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series

• Authors : Vercauteren, Leonie; Consejo, Alejandra; De Vries, Meindert Jan

• Source: Eye and Contact Lens; July 2024, Vol. 50 Issue: 7 p321-328, 8p

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Nephropathic cystinosis in Poland: a 40 -year retrospective study.

• Authors : Sikora, Przemysław; Grenda, Ryszard; Kowalczyk, Małgorzata

• Source: Polish Archives of Internal Medicine; Nov2022, Vol. 132 Issue 11, p1-9, 9p

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MFSD12depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis

• Authors : Bondue, Tjessa; Khodaparast, Laleh; Khodaparast, Ladan

• Source: American Journal of Physiology - Renal Physiology; June 2024, Vol. 326 Issue: 6 pF981-F987, 7p

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Investigation on Cross-correction of Cystinosis through Genetically Engineered Cells Secreting Cystinosin

• Authors : Graceffa, Valeria

• Source: Current Biotechnology; 2024, Vol. 13 Issue: 1 p46-57, 12p

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Temporary hemiepiphysiodesis for correction of genu valgum due to cystinosis: a preliminary interventional study in children.

• Authors : Ghaznavi, Alireza; Mohammadpour, Mehdi; Taheri, Nima

• Source: Current Orthopaedic Practice; Sep/Oct2022, Vol. 33 Issue 5, p424-427, 4p

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Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.

• Authors : Deepthi, Bobbity; Krishnamurthy, Sriram; Karunakar, Pediredla

• Source: CEN Case Reports; 8/1/2022, Vol. 11 Issue 3, p347-350, 4p

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The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis

• Authors : Luciani, Alessandro; Devuyst, Olivier

• Source: Autophagy; January 2024, Vol. 20 Issue: 1 p202-204, 3p

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Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?

• Authors : Christer, Salómon; Simons, Matias

• Source: Kidney International; April 2024, Vol. 105 Issue: 4 p656-658, 3p

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Implementación de un método para la cuantificación de cistina intraleucocitaria como apoyo diagnóstico para la cistinosis.

• Authors : Maria Guevara Morales, Johana; Echeverri Peña, Olga Yaneth

• Source: Nefrologia; Jan/Feb2020, Vol. 40 Issue 1, p99-103, 5p

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Investigators from Scripps Research Institute Zero in on Cystinosis (Reconstitution of Rab11-fip4 Expression Rescues Cellular Homeostasis In Cystinosis).

• Source: Genomics & Genetics Weekly; 11/22/2024, p760-760, 1p

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