Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye.

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic SLC34A3 and Monoallelic SLC3A1 Pathogenic Variants: Who is 'The Culprit'?

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

L-Ergothioneine Attenuates Nephrolithiasis by Modulating Redox Signaling and Mitochondrial Function in Cystine and Calcium Oxalate Models.

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Synergistic Effects in a Homochiral Metal-Organic Framework Enable Enhanced Enantiomeric Discrimination and Ultrasensitive Detection of Disulfide-Containing Biomarkers.

A novel ratiometric fluorescent sensing strategy of arginine based on lanthanide-based metal-organic framework.

Cystinuria in an Australian Cattle Dog Family-A Seemingly Androgen-Associated Autosomal Dominant Trait.

Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.

Acquired cystinuria in a kidney transplant recipient.

Colorimetric "off-on" sensing of penicillamine via copper-mediated modulation of laccase-mimetic activity of trimanganese tetroxide nanoflowers.

Dietary salt and protein intake and urinary cystine excretion in patients with cystinuria.

Tiopronin safety in cystinuria: first real-world pharmacovigilance analysis using the FDA Adverse Event Reporting System (FAERS): an EAU YAU and Endourology sections review.

Differential clinical characteristics of Chinese children with primary hyperoxaluria type 3.

Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

Oxalate stones in a cystinuria patient.

Urinary Cystine/Creatinine Concentrations Before and After Castration in Dogs With Suspected Androgen-Dependent Cystine Urolithiasis.

Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases.

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.

Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery.

A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes.

Management of urinary stones by experts in stone disease (ESD 2025).

Dual-mode colorimetric and fluorometric detection of D-penicillamine via inhibition of peroxidase-mimetic activity of bimetallic N-doped carbon dots.

Cystinuria: a genetic and molecular view. What is known about animal models and cells.

Kidney stones and metabolic bone diseases not linked to parathyroid disfunction: a proposal for an integrated management.

Disruptions in Tiopronin therapy: impacts on clinical outcomes of pediatric cystinuria patients during the COVID-19 pandemic.

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.

Sex and Age Variation for Nephrolithiasis Risk Factors on 24-Hour Urine Metabolic Evaluation: A Real-World Single-center Retrospective Analysis.

Understanding Rare Kidney Stone Diseases: A Review.

Enhancing Renal Stone Management: Tip-Flexible Ureteral Access Sheath in Cystine Stone Surgery.

Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths.

Cystinuria in children: diagnosis and treatment.

Comprehensive analysis of pediatric urolithiasis in a tertiary care center and insights into demographics, risk factors, and management outcomes.

Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel.

Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria.

Exploring tiopronin adsorption on pristine and Al/Ga-doped boron nitride nanoclusters: A DFT approach for enhanced drug delivery.

Cystinuria-Related Urinary Stone as the Cause of Repeated Urinary Tract Infections (UTIs) in a Child.

Kidney Stones in Children: Causes, Consequences, and Concerns.

The Impact of Stone Composition on Treatment Strategies for Patients with Urolithiasis: A Narrative Review.

Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease.

The potential role of Sodium/Glucose Cotransporter 2 inhibitors in the treatment of cystinuria.

Discovery of l-Lysine Dioxalate (LH1513) as a Novel Inhibitor of Calcium Oxalate Crystallization for Hyperoxaluria.

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.

Structure-activity relationships and pharmacokinetic evaluation of L-cystine diamides as L-cystine crystallization inhibitors for cystinuria.

Cystine crystal nucleation and decay in the context of cystinuria pathogenesis and treatment.

Challenges in diagnosis and treatment of cystinuria patients with Urolithiasis: multicenter patient centered study.

Cystine urolithiasis-free duration after first occurrence and treatment is longer for castrated dogs than for sexually intact male dogs.

The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.

Tiopronin-induced Membranous Nephropathy Presenting with IgG4-predominant Staining Pattern.

Transient Urinothorax Following Nephrostomy Tube Placement and Percutaneous Nephrolithotomy: A Case Report.

8-l-Cystinyl Bis(1,8-diazaspiro[4.5]decane) as an Orally Bioavailable l-Cystine Crystallization Inhibitor for Cystinuria.

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.

The Yield of Genetic Testing in Management of Nephrolithiasis.

Bone mineral density assessment in patients with cystinuria.

Covalent post-synthetic modification of MOFs as a fluorescent sensor for the efficient detection of the biomarker of cystinuria.

Management of urinary stones: state of the art and future perspectives by experts in stone disease.

Adeno-associated virus-based gene therapy for cystinuria.

Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.

Ureteroscopic management in cystinuric patients: long-term results from a tertiary care referral center.

Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report.

Genome editing and kidney health.

Renal Cystinuria and Immune Cells (T Lymphocytes) Dysfunction: What We Know about?

Review of childhood genetic nephrolithiasis and nephrocalcinosis.

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Donor-transmitted cystinuria in a renal transplant recipient.

Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.

Cystinuria Complicated by Anuria From Bilateral Obstructing Stones Requiring Bilateral Mini Percutaneous Nephrolithotomy in a 22-Month-Old.

A RETROSPECTIVE STUDY OF DISEASE PROCESSES IN MANED WOLVES (CHRYSOCYON BRACHYURUS) IN NORTH AMERICAN ZOOLOGICAL INSTITUTIONS WITH EMPHASIS ON UROLITHIASIS, INFLAMMATORY BOWEL DISEASE, AND NEOPLASIA.

The genetics of cystinuria - an update and critical reevaluation.

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.

Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

Thiazide Use for the Prevention of Recurrent Calcium Kidney Stones.

Hydration for Adult Patients with Nephrolithiasis: Specificities and Current Recommendations.

Postnatal outcome of children with antenatal colonic hyperechogenicity.

A retrospective study on epidemiology and management of canine cystine uroliths in one part of Norway from 2015 to 2020.

Pharmacological interventions for the management of cystinuria: a systematic review.

A case of hyperlysinemia identified by urine newborn screening.

2022 Recommendations of the AFU Lithiasis Committee: Medical management - from diagnosis to treatment.

Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.

Molecular identification of missense variants in SLC3A1 gene; an approach leading to computer-aided drug design for cystinuria.

Development of convenient crystallization inhibition assays for structure-activity relationship studies in the discovery of crystallization inhibitors.

The effectiveness of citrates and pyridoxine in the treatment of kidney stones.

Chemical Modification of Tiopronin for Dual Management of Cystinuria and Associated Bacterial Infections.

An amperometric method for the determination of cystine in urine samples and pharmaceutical tablets using screen-printed silver electrodes.

A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report.

Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.

Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.

The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria.

Self-Assembly of Cysteine into Nanofibrils Precedes Cystine Crystal Formation: Implications for Aggregation Inhibition.

Cystine Stones: Developments in Minimally Invasive Surgery and Their Impact on Morbidity and Stone Clearance.

Cystinuria without cystine? Correct assessment to avoid misdiagnosis: lessons for the clinical nephrologist.

Research progress on renal calculus associate with inborn error of metabolism.

Thulium fiber laser in cystine calculi.

Rapid detection of the biomarker for cystinuria by a metal-organic framework fluorescent sensor.

Why is childhood urolithiasis increasing? Etiology, diagnosis and management: a single-center experience.

Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.

Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature.

Entering into 2.0 cystinuric management with a medical digital tool to monitor urine pH: a prospective, randomized study.

Unraveling the natural history of presymptomatic cystinuria.

Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up.

Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.

A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria.

Diagnosis and Management of Nephrolithiasis in Children.

Pediatric cystine stone successfully treated by mini-percutaneous nephrolithotripsy and antegrade ureteroscopy.

Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations.

Urinary stone disease in Syrian children.

Genetic and clinical analysis of Chinese pediatric patients with cystinuria.

Case-based review of dietary management of cystinuria.

Penicillamine-induced degenerative dermopathy in a patient with Wilson's disease.

Can prenatal renal pelvicalyceal echogenic foci support the diagnosis of cystinuria?

Antenatal Hyperechogenic Colon and Cystinuria.

Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.

Pediatric urolithiasis: what can pediatricians expect from radiologists?

Service evaluation of a clinical scientist-led cystinuria clinic.

Knotted double j ureteral stent: a case report and literature review.

Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.

Accurate 24-h urine cystine quantification for patients on cystine-binding thiol drugs.

A pediatric case of ureterolithiasis due to cystinuria accompanied by acute appendicitis; a case report.

Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues.

Tiopronin-induced membranous nephropathy in a patient with refractory familial cystinuria.

A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice.

Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.

Cystinuria: An Overview of Diagnosis and Medical Management.

Metabolic and Genetic Evaluation in Children with Nephrolithiasis.

Novel "Turn-On" Luminescent Chemosensor for Arginine by Using a Lanthanide Metal-Organic Framework Photosensitizer.

Cystinuria: An Overview of Challenges and Surgical Management.

Comprehensive proteomic quantification of bladder stone progression in a cystinuric mouse model using data-independent acquisitions.

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.

Lipidomics characterization of the lipid metabolism profiles in a cystinuria rat model: Precalculus damage in the kidney of cystinuria.

Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.

Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats.

Repurposing of Various Current Medicines as Radioprotective Agents.

Concomitant Urinary Triple Phosphate and Cystine Crystals.

Crystalline structures of L-cysteine and L-cystine: a combined theoretical and experimental characterization.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.

Progressive dermopathy akin to pseudoxanthoma elasticum after D-penicillamine use in a patient with cystinuria.

Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia.

Disrupting Crystal Growth through Molecular Recognition: Designer Therapies for Kidney Stone Prevention.

Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center.

Childhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy: A retrospective study from 2 tertiary centers.

Gene therapy for kidney disease: targeting cystinuria.

Cystinuria: Review of a Life-long and Frustrating Disease.

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis.

Development of a Novel Benzimidazole-Based Probe and Portable Fluorimeter for the Detection of Cysteine in Human Urine.

Cystinuria: an update on pathophysiology, genetics, and clinical management.

A Novel Variant in Iranian Patient with Cystinuria: A Case Report.

The Ectodomains of rBAT and 4F2hc Are Fake or Orphan α-Glucosidases.

A case of early onset cystinuria in a 4-month-old girl.

Distinction of chiral penicillamine using metal-ion coupled cyclodextrin complex as chiral selector by trapped ion mobility-mass spectrometry and a structure investigation of the complexes.

Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model.

Atomistic Assessment of Cystine Kidney Stone Behavior in a Mechanical Breakdown Process by Nanobiorobots through Classical Molecular Dynamics Simulations.

Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?

Unusual Aggregates Formed by the Self-Assembly of Proline, Hydroxyproline, and Lysine.

The zebrafish cationic amino acid transporter/glycoprotein-associated family: sequence and spatiotemporal distribution during development of the transport system b0,+ (slc3a1/slc7a9).

Safety profile of D-penicillamine: a comprehensive pharmacovigilance analysis by FDA adverse event reporting system.

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Extremely rapid stone formation in cystinuria: look out for dietary supplements!

Bariatric surgery in a patient with cystinuria.

Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.

Cystinuria poorly responding to treatment - the risk of chronic kidney disease.

Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

Outcome of primary tubular tubulopathies diagnosed in pediatric age.

The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation.

An Update on Evaluation and Management in Cystinuria.

[A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria].

Clinical profile of a Polish cohort of children and young adults with cystinuria.

Outcomes of dissolution therapy and monitoring for stone disease: should we do better?

[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Urolithiasis/Endourology.

Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone.

Non-contrast computed tomography characteristics in a large cohort of cystinuria patients.

Metal-organic frameworks: a future toolbox for biomedicine?

WITHDRAWN: Clinical characteristics of pediatric patients with cystinuria at the Puigvert Foundation in the last 20 years.

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis.

Cystinuria: clinical practice recommendation.

Endourologic and Retroperitoneoscopic Combined Mininvasive Management of Cystine Urolithiasis in an Infant of 13 Months of Life.

Metabolic and Clinical Characteristics of Children with Urolithiasis from Southern India.

Pharmacological Dilutional Therapy Using the Vasopressin Antagonist Tolvaptan for Young Patients With Cystinuria: A Pilot Investigation.

Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.

[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Re: CRISPR/Cas9 Engineering of Albino Cystinuria Type A Mice.

Genetics of kidney stone disease.

Update on cystine stones: current and future concepts in treatment.

Elastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol.

Cystinuria: urine sediment as a diagnostic test.

The Use of Captopril-Angiotensin Converting Enzyme (ACE) Inhibitor for Cystinuria During COVID-19 Pandemic.