• A case of early onset cystinuria in a 4-month-old girl
• A Case of Long-Term Treatment with Extracorporeal Shock Wave Lithotripsy and Follow-Up for Cystine Calculi by Cystinuria
• A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria
• A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance
• A highly selective and sensitive fluorescent sensor based on Tb³⁺-functionalized MOFs to determine arginine in urine: a potential application for the diagnosis of cystinuria
• A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice
• A novel fluorescent probe for rapidly detection cysteine in cystinuria urine, living cancer/normal cells and BALB/c nude mice
• Accurate 24-h urine cystine quantification for patients on cystine-binding thiol drugs
• Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France
• An Update on Evaluation and Management in Cystinuria
• Antenatal Hyperechogenic Colon and Cystinuria
• Assessment of health-related quality of life in patients with cystinuria on tiopronin therapy
• Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria
• Biochemical phenotyping of multiple myeloma patients at diagnosis reveals a disorder of mitochondrial complexes I and II and a Hartnup-like disturbance as underlying conditions, also influencing different stages of the disease
• Ca²⁺-mediated higher-order assembly of heterodimers in amino acid transport system b^0,+ biogenesis and cystinuria
• Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center
• Case-based review of dietary management of cystinuria
• Chemical Modification of Tiopronin for Dual Management of Cystinuria and Associated Bacterial Infections
• Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel <em>SLC3A1</em> Mutation
• Clinical profile of a Polish cohort of children and young adults with cystinuria
• Comprehensive proteomic quantification of bladder stone progression in a cystinuric mouse model using data-independent acquisitions
• Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria
• Concomitant Urinary Triple Phosphate and Cystine Crystals
• Covalent post-synthetic modification of MOFs as a fluorescent sensor for the efficient detection of the biomarker of cystinuria
• COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption
• CRISPR/Cas9 engineering of albino cystinuria Type A mice
• Crystalline structures of L-cysteine and L-cystine: a combined theoretical and experimental characterization
• Cystinuria
• Cystinuria
• Cystinuria Complicated by Anuria From Bilateral Obstructing Stones Requiring Bilateral Mini Percutaneous Nephrolithotomy in a 22-Month-Old
• Cystinuria in association with cataract
• Cystinuria in Childhood
• Cystinuria poorly responding to treatment - the risk of chronic kidney disease
• Cystinuria without cystine? Correct assessment to avoid misdiagnosis: lessons for the clinical nephrologist
• Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up
• Cystinuria: an update on pathophysiology, genetics, and clinical management
• Cystinuria: clinical practice recommendation
• Cystinuria: Review of a Life-long and Frustrating Disease
• Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report
• Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats
• Disrupting Crystal Growth through Molecular Recognition: Designer Therapies for Kidney Stone Prevention
• Effect of increasing doses of cystine-binding thiol drugs on cystine capacity in patients with cystinuria
• Entering into 2.0 cystinuric management with a medical digital tool to monitor urine pH: a prospective, randomized study
• Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement
• Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs
• Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency
• Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study
• Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
• Gene therapy for cystinuria
• Gene therapy for kidney disease: targeting cystinuria
• Genetic and clinical analysis of Chinese pediatric patients with cystinuria
• Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy
• Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations
• Hydration for Adult Patients with Nephrolithiasis: Specificities and Current Recommendations
• Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre
• Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
• Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
• Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability
• Lipidomics characterization of the lipid metabolism profiles in a cystinuria rat model: Precalculus damage in the kidney of cystinuria
• Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
• Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review
• Metabolic and Clinical Characteristics of Children with Urolithiasis from Southern India
• Metabolic consequences of cystinuria
• Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet
• Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases
• Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
• Non-contrast computed tomography characteristics in a large cohort of cystinuria patients
• Novel "Turn-On" Luminescent Chemosensor for Arginine by Using a Lanthanide Metal-Organic Framework Photosensitizer
• Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
• Outcomes of dissolution therapy and monitoring for stone disease: should we do better?
• Pediatric urolithiasis: what can pediatricians expect from radiologists?
• Penicillamine-induced degenerative dermopathy in a patient with Wilson's disease
• Pharmacological Dilutional Therapy Using the Vasopressin Antagonist Tolvaptan for Young Patients With Cystinuria: A Pilot Investigation
• Pharmacological interventions for the management of cystinuria: a systematic review
• Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening
• Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain
• Postnatal outcome of children with antenatal colonic hyperechogenicity
• Progressive dermopathy akin to pseudoxanthoma elasticum after D-penicillamine use in a patient with cystinuria
• Rapid detection of the biomarker for cystinuria by a metal-organic framework fluorescent sensor
• Re: Assessment of Health-Related Quality of Life in Patients with Cystinuria on Tiopronin Therapy
• Re: CRISPR/Cas9 Engineering of Albino Cystinuria Type A Mice
• Re: Cystinuria: Genetic Aspects, Mouse Models, and a New Approach to Therapy
• Re: Metabolic Consequences of Cystinuria
• Re: Urine Proteomic Profiling in Patients with Nephrolithiasis and Cystinuria
• Self-Assembly of Cysteine into Nanofibrils Precedes Cystine Crystal Formation: Implications for Aggregation Inhibition
• Service evaluation of a clinical scientist-led cystinuria clinic
• The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9^-/- mouse model of cystinuria
• The effect of additional drug therapy as metaphylaxis in patients with cystinuria: a systematic review
• The genetics of cystinuria - an update and critical reevaluation
• The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation
• The Use of Captopril-Angiotensin Converting Enzyme (ACE) Inhibitor for Cystinuria During COVID-19 Pandemic
• Thulium fiber laser in cystine calculi
• Tiopronin-induced membranous nephropathy in a patient with refractory familial cystinuria
• Tolvaptan treatment of cystine urolithiasis in a mouse model of cystinuria
• Unraveling the natural history of presymptomatic cystinuria
• Ureteroscopic management in cystinuric patients: long-term results from a tertiary care referral center
• Urine proteomic profiling in patients with nephrolithiasis and cystinuria
• Urolithiasis/Endourology
• Why is childhood urolithiasis increasing? Etiology, diagnosis and management: a single-center experience
• α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases