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Last Updated: 01/07/2026

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Found 1581 publications

Nephropathic cystinosis: fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine.

Nephropathic cystinosis: fibrosing colonopathy can also be seen long after introduction of delayed release cysteamine.

Journal: Pediatric nephrology (Berlin, Germany)
Published: August 29, 2025

Ocular manifestations and multimodal imaging in infantile nephropathic cystinosis.

Ocular manifestations and multimodal imaging in infantile nephropathic cystinosis.

Journal: QJM : monthly journal of the Association of Physicians
Published: August 15, 2025

Nasopharyngeal Cystine Crystal Deposition Postrenal Transplant: Case Report and Review of a Rare Cystinosis Manifestation.

Nasopharyngeal Cystine Crystal Deposition Postrenal Transplant: Case Report and Review of a Rare Cystinosis Manifestation.

Journal: International journal of surgical pathology
Published: August 12, 2025

JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux.

JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux.

Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025

Cystadrops® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years.

Cystadrops® Eye Drops for the Management of Ocular Cystinosis in Patients Aged 6 Months to < 2 Years.

Journal: Ophthalmology and therapy
Published: July 07, 2025

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.

Journal: Case reports in ophthalmology
Published: July 05, 2025

From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis.

From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis.

Journal: International journal of molecular sciences
Published: June 30, 2025

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.

Journal: Frontiers in cell and developmental biology
Published: June 05, 2025

Serum N-glycosylation is altered in Nephropathic Cystinosis.

Serum N-glycosylation is altered in Nephropathic Cystinosis.

Journal: Glycobiology
Published: May 30, 2025

Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis.

Untangling Traffic Jams: RAB11FIP4 Orchestrates Cellular Recovery in Cystinosis.

Journal: Autophagy reports
Published: May 21, 2025

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.

Journal: Children (Basel, Switzerland)
Published: May 21, 2025

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.

Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.

Journal: Experimental and molecular pathology
Published: May 20, 2025
Showing 1-12 of 1,581

Last Updated: 01/07/2026