• A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis
• A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland
• A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients
• A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the "pocus force"
• A Review on the Antimutagenic and Anticancer Effects of Cysteamine
• Addressing the psychosocial aspects of transition to adult care in patients with cystinosis
• Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
• Chronic Kidney Disease and Growth Failure in Children
• Clinical significance of hypouricemia in children and adolescents
• Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series
• Corneal cystinosis following eight years of systemic and topical treatment
• Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis
• CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants
• Cysteamine Eye Drops in Hyaluronic Acid Packaged in Innovative Single-Dose Systems, Part II: Long-Term Stability and Clinical Ocular Biopermanence
• Cysteamine Suppresses Cancer Cell Invasion and Migration in Glioblastoma through Inhibition of Matrix Metalloproteinase Activity
• Cysteamine toxicity presenting with acute encephalopathy and spastic tetraparesis
• Cystinosis Registry of India: Data Analysis of Patients with Cystinosis
• Cystinosis-associated metabolic bone disease across ages and CKD stages 1-5D/T
• Cystinosis: Status of research and treatment in India and the world
• Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content
• Drug discovery and therapeutic perspectives for proximal tubulopathies
• Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients
• ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine
• Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis
• Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations)
• Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)
• Event-related potential (ERP) evidence of early visual processing differences in cystinosis
• Extrarenal complications of cystinosis
• Failure to Thrive With Severe Hypokalemia Yields Cystinosis Diagnosis in a 19-Month-Old Female Child: A Case Report
• Fertility Management in Cystinosis: A Clinical Perspective
• Fibrosing colonopathy associated with cysteamine bitartrate delayed-release capsules in cystinosis patients
• Fibrosing Colonopathy Presenting in a Patient with Cystinosis
• Functional analysis of the CTNS gene exonic variants predicted to affect splicing
• Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives
• Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons
• Genetic predisposition to porto-sinusoidal vascular disorder
• Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis
• Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom
• In vivo confocal microscopy for ocular surface investigation in nephropathic cystinosis
• Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis
• Kidney involvement in rare hereditary diseases
• Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to "A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis")
• Long-term effects of luteolin in a mouse model of nephropathic cystinosis
• Lysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?
• Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization
• MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis
• Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years
• Multinucleated podocytes as a clue to diagnosis of juvenile nephropathic cystinosis
• Multiple antimicrobial and immune-modulating activities of cysteamine in infectious diseases
• Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity
• Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis
• Ocular manifestations of the genetic renal tubulopathies
• Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells
• Pattern of hereditary renal tubular disorders in Egyptian children
• Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification
• Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study
• Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature
• Rescue of Alzheimer's disease phenotype in a mouse model by transplantation of wild-type hematopoietic stem and progenitor cells
• Residual Cystine Transport Activity for Specific Infantile and Juvenile <em>CTNS</em> Mutations in a PTEC-Based Addback Model
• Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties
• Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies
• Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation
• Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice
• The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience
• The CTNS-MTORC1 axis couples lysosomal cystine to epithelial cell fate decisions and is a targetable pathway in cystinosis
• The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study
• The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing
• Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives
• Utility of post-transplant native nephrectomy in children with nephropathic cystinosis: A single centre retrospective study
• Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective