Cystinuria: clinical practice recommendation.

[1]  Farzana Perwad,et al.  α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases , 2020, Pediatrics.

[2]  D. Papagiannopoulos,et al.  Evaluation and medical management of patients with cystine nephrolithiasis: a consensus statement. , 2020, Journal of endourology.

[3]  J. Jais,et al.  Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France , 2019, BJU international.

[4]  R. Pickard,et al.  Factors associated with spontaneous stone passage in a contemporary cohort of patients presenting with acute ureteric colic: results from the Multi‐centre cohort study evaluating the role of Inflammatory Markers In patients presenting with acute ureteric Colic (MIMIC) study , 2019, BJU international.

[5]  M. Bultitude,et al.  Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre , 2019, Urolithiasis.

[6]  M. Ward,et al.  Cystinuria: genetic aspects, mouse models, and a new approach to therapy , 2018, Urolithiasis.

[7]  B. Eisner,et al.  Conversion from Cystine to Noncystine Stones: Incidence and Associated Factors , 2018, The Journal of urology.

[8]  V. Kholodovych,et al.  Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria. , 2018, Bioorganic & medicinal chemistry letters.

[9]  B. Somani,et al.  Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER (stone and fragments entirely removed) , 2018, Urolithiasis.

[10]  M. Stoller,et al.  Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease. , 2018, Journal of endourology.

[11]  M. Pearle,et al.  Do Urinary Cystine Parameters Predict Clinical Stone Activity? , 2018, The Journal of urology.

[12]  N. Voermans,et al.  PREPL deficiency: delineation of the phenotype and development of a functional blood assay , 2017, Genetics in Medicine.

[13]  A. Bourillon,et al.  Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon , 2017, Clinical genetics.

[14]  T. Frebourg,et al.  Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants , 2017, Molecular genetics & genomic medicine.

[15]  S. Nakada,et al.  Cystine Stone Formers Have Impaired Health-Related Quality of Life Compared with Noncystine Stone Formers: A Case-Referent Study Piloting the Wisconsin Stone Quality of Life Questionnaire Among Patients with Cystine Stones. , 2017, Journal of endourology.

[16]  A. Ramanathan,et al.  α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria , 2017, Nature Medicine.

[17]  M. Alfadhel,et al.  Delineation of cystinuria in Saudi Arabia: A case series , 2017, BMC Nephrology.

[18]  M. Ward,et al.  l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria. , 2016, Journal of medicinal chemistry.

[19]  T. Knoll,et al.  Quality Assessment of Urinary Stone Analysis: Results of a Multicenter Study of Laboratories in Europe , 2016, PloS one.

[20]  T. Athanasiou,et al.  Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria? , 2016, Journal of endourology.

[21]  Emilie K. Johnson,et al.  Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study. , 2016, Journal of pediatric urology.

[22]  Kemal Sarica,et al.  EAU Guidelines on Diagnosis and Conservative Management of Urolithiasis. , 2016, European urology.

[23]  M. Palacín,et al.  Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1 , 2016, Proceedings of the National Academy of Sciences.

[24]  P. Osther,et al.  How should patients with cystine stone disease be evaluated and treated in the twenty-first century? , 2016, Urolithiasis.

[25]  Justin M Parr,et al.  Natural history and quality of life in patients with cystine urolithiasis: a single centre study , 2015, BJU international.

[26]  D. Thwaites,et al.  Clinical and genetic analysis of patients with cystinuria in the United Kingdom. , 2015, Clinical journal of the American Society of Nephrology : CJASN.

[27]  M. Wass,et al.  The genetic diversity of cystinuria in a UK population of patients , 2015, BJU international.

[28]  M. Daudon,et al.  CKD and Its Risk Factors among Patients with Cystinuria. , 2015, Clinical journal of the American Society of Nephrology : CJASN.

[29]  B. Knebelmann,et al.  A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients. , 2015, Journal of proteome research.

[30]  D. Assimos.  Re: Predicting urinary stone composition based on single-energy noncontrast computed tomography: the challenge of cystine. , 2014, The Journal of urology.

[31]  M. Desai,et al.  PCNL in the twenty-first century: role of Microperc, Miniperc, and Ultraminiperc , 2015, World Journal of Urology.

[32]  Dana R. Kriesel,et al.  Ultrasonography versus computed tomography for suspected nephrolithiasis. , 2014, The New England journal of medicine.

[33]  M. Bultitude,et al.  Cystinuria—a urologist's perspective , 2014, Nature Reviews Urology.

[34]  V. Kokkinou,et al.  Cystinuria: current diagnosis and management. , 2014, Urology.

[35]  M. Monga,et al.  Predicting urinary stone composition based on single-energy noncontrast computed tomography: the challenge of cystine. , 2014, Urology.

[36]  G. Gambaro,et al.  When to suspect a genetic disorder in a patient with renal stones, and why. , 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[37]  M. Grasso,et al.  Ureteropyeloscopic treatment of large, complex intrarenal and proximal ureteral calculi , 2013, BJU international.

[38]  L. Pizzi,et al.  Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers , 2013, Urolithiasis.

[39]  E. Jackson,et al.  Cystinuria: mechanisms and management , 2012, Pediatric Nephrology.

[40]  F. Muller,et al.  Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria , 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[41]  E. Levtchenko,et al.  Necessity of fractionated urine collection for monitoring patients with cystinuria. , 2011, Clinical chemistry.

[42]  V. Nieto,et al.  Hiperecogenicidad prenatal del colon como signo precoz de cistinuria , 2011 .

[43]  M. I. Luis Yanes,et al.  Foetal hyper-echogenic colon as an early sign of cystinuria. , 2011, Nefrología.

[44]  Z. Gucev,et al.  Nephrotic syndrome occurring during tiopronin treatment for cystinuria , 2011, European Journal of Pediatrics.

[45]  M. Ward,et al.  Crystal Growth Inhibitors for the Prevention of l-Cystine Kidney Stones Through Molecular Design , 2010, Science.

[46]  E. H. Lambert,et al.  Analysis of 24-hour urine parameters as it relates to age of onset of cystine stone formation. , 2010, Journal of endourology.

[47]  D. Goldfarb,et al.  Pathophysiology and treatment of cystinuria , 2010, Nature Reviews Nephrology.

[48]  A. Kural,et al.  The role for active monitoring in urinary stones: a systematic review. , 2010, Journal of endourology.

[49]  H. Tiselius.  New horizons in the management of patients with cystinuria , 2010, Current opinion in urology.

[50]  G. Hidas,et al.  Extracorporeal shock wave lithotripsy in prepubertal children: 22-year experience at a single institution with a single lithotriptor. , 2009, The Journal of urology.

[51]  Eric J Bergstralh,et al.  Kidney stones and the risk for chronic kidney disease. , 2009, Clinical journal of the American Society of Nephrology : CJASN.

[52]  R. Deberardinis,et al.  Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. , 2008, The Journal of urology.

[53]  S. Nakada,et al.  Acetazolamide is an effective adjunct for urinary alkalization in patients with uric acid and cystine stone formation recalcitrant to potassium citrate. , 2008, Urology.

[54]  D. Goldfarb,et al.  Cystinuria. , 2008, Seminars in Nephrology.

[55]  A. C. Buck,et al.  2007 Guideline for the management of ureteral calculi. , 2007, European urology.

[56]  R. Paterson,et al.  Cystine calculi: correlation of CT-visible structure, CT number, and stone morphology with fragmentation by shock wave lithotripsy , 2007, Urological Research.

[57]  H. Bouzidi,et al.  Cystinurie : du diagnostic à la surveillance thérapeutique , 2007 .

[58]  A. Pastore,et al.  Cystinuria in children and young adults: success of monitoring free-cystine urine levels , 2007, Pediatric Nephrology.

[59]  Raoul Rooman,et al.  Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome , 2007, European Journal of Human Genetics.

[60]  C. Iselin,et al.  Low-dose versus standard-dose CT protocol in patients with clinically suspected renal colic. , 2007, AJR. American journal of roentgenology.

[61]  H. Tiselius,et al.  Composition and clinically determined hardness of urinary tract stones , 2007, Scandinavian journal of urology and nephrology.

[62]  M. Daudon,et al.  [Cystinuria: from diagnosis to follow-up]. , 2007, Annales de Biologie Clinique.

[63]  C. Garel,et al.  Hyper‐echogenic colon: a prenatal sign of cystinuria? , 2006, Prenatal diagnosis.

[64]  G. Habib,et al.  Penicillamine and nephrotic syndrome. , 2006, European journal of internal medicine.

[65]  A. Evan,et al.  Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis , 2006, BJU international.

[66]  F. de Zegher,et al.  Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. , 2006, American journal of human genetics.

[67]  M. Daudon.  Épidémiologie actuelle de la lithiase rénale en France , 2005 .

[68]  S. Nakada,et al.  Urological intervention in patients with cystinuria is decreased with medical compliance. , 2005, The Journal of urology.

[69]  H. Mostafid,et al.  Planning percutaneous nephrolithotomy using multidetector computed tomography urography, multiplanar reconstruction and three‐dimensional reformatting , 2005, BJU international.

[70]  D. Goldfarb,et al.  Effect of cystine-binding thiol drugs on urinary cystine capacity in patients with cystinuria. , 2005, Journal of endourology.

[71]  M. Palacín,et al.  New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype , 2005, Journal of Medical Genetics.

[72]  W. Geilenkeuser,et al.  Quality control in urinary stone analysis: results of 44 ring trials (1980–2001) , 2005, Clinical chemistry and laboratory medicine.

[73]  A. Holdgate,et al.  Systematic review of the relative efficacy of non-steroidal anti-inflammatory drugs and opioids in the treatment of acute renal colic , 2004, BMJ : British Medical Journal.

[74]  P. Alken,et al.  Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up , 2004, Pediatric Nephrology.

[75]  K. Zerres,et al.  Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. , 2003, Kidney international.

[76]  Y. Kreiss,et al.  Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls. , 2003, The Israel Medical Association journal : IMAJ.

[77]  James E Lingeman,et al.  Variability of renal stone fragility in shock wave lithotripsy. , 2003, Urology.

[78]  M. Daudon,et al.  Cystine crystal volume determination: a useful tool in the management of cystinuric patients , 2003, Urological Research.

[79]  M. Gallucci,et al.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. , 2002, Journal of the American Society of Nephrology : JASN.

[80]  B. Weaver,et al.  The accuracy of noncontrast helical computed tomography versus intravenous pyelography in the diagnosis of suspected acute urolithiasis: a meta-analysis. , 2002, Annals of emergency medicine.

[81]  D. Assimos,et al.  The impact of cystinuria on renal function. , 2002, The Journal of urology.

[82]  H. Tiselius,et al.  A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria , 2001, Urological Research.

[83]  J. Parks,et al.  Solid phase assay of urine cystine supersaturation in the presence of cystine binding drugs. , 2001, The Journal of urology.

[84]  G. Borsani,et al.  The molecular bases of cystinuria and lysinuric protein intolerance. , 2001, Current opinion in genetics & development.

[85]  R. Venta.  Year-long validation study and reference values for urinary amino acids using a reversed-phase HPLC method. , 2001, Clinical chemistry.

[86]  D. Goldfarb,et al.  Clinical use of cystine supersaturation measurements. , 2000, The Journal of urology.

[87]  M. Daudon.  L'analyse morphoconstitutionnelle des calculs dans le diagnostic étiologique d'une lithiase urinaire de l'enfant , 2000 .

[88]  P. Rieu,et al.  Medical treatment of cystinuria: critical reappraisal of long-term results. , 2000, The Journal of urology.

[89]  C. Kane,et al.  Time to stone passage for observed ureteral calculi: a guide for patient education. , 1999, The Journal of urology.

[90]  X. Estivill,et al.  Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT , 1999, Nature Genetics.

[91]  K. Akakura,et al.  The Long-Term Outcome of Cystinuria in Japan , 1998, Urologia Internationalis.

[92]  C. Roehrborn,et al.  Optimal method of urgent decompression of the collecting system for obstruction and infection due to ureteral calculi. , 1998, The Journal of urology.

[93]  G. Chow,et al.  Contemporary urological intervention for cystinuric patients: immediate and long-term impact and implications. , 1998, The Journal of urology.

[94]  P. D'eufemia,et al.  Usefulness of cyanide-nitroprusside test in detecting incomplete recessive heterozygotes for cystinuria: a standardized dilution procedure , 1998, Urological Research.

[95]  J. Gelpí,et al.  Obligatory Amino Acid Exchange via Systems bo,+-like and y+L-like , 1996, The Journal of Biological Chemistry.

[96]  N. Arber,et al.  Mutations in the SLC3A1 transporter gene in cystinuria. , 1995, American journal of human genetics.

[97]  F. Santos,et al.  Effect of a low sodium diet on urinary elimination of cystine in cystinuric children. , 1995, Nephron.

[98]  X. Estivill,et al.  Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine , 1994, Nature Genetics.

[99]  G. Katz,et al.  Extracorporeal shock wave lithotripsy for treatment of ureterolithiasis in patients with cystinuria. , 1993, British journal of urology.

[100]  J. Kvist Kristensen,et al.  Painful caliceal calculi. The treatment of small nonobstructing caliceal calculi in patients with symptoms. , 1993, Scandinavian journal of urology and nephrology.

[101]  M. Barnett,et al.  Cystinuria and renal transplantation. , 1993, Nephron.

[102]  T. Skogh,et al.  Membranous glomerulonephritis induced by 2-mercaptopropionylglycine (2-MPG). , 1990, Clinical Nephrology.

[103]  R. Norman,et al.  Dietary restriction of sodium as a means of reducing urinary cystine. , 1990, The Journal of urology.

[104]  K. Sakhaee,et al.  The spectrum of metabolic abnormalities in patients with cystine nephrolithiasis. , 1989, The Journal of urology.

[105]  D. Rabier,et al.  Age-related reference values for free amino acids in first morning urine specimens. , 1988, Clinical chemistry.

[106]  S. Dretler,et al.  Stone fragility--a new therapeutic distinction. , 1988, The Journal of urology.

[107]  J. Zerwekh,et al.  Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. , 1986, The Journal of urology.

[108]  L. Rosenberg,et al.  Anticystinuric effects of glutamine and of dietary sodium restriction. , 1986, The New England journal of medicine.

[109]  I. Jaffe.  Adverse effects profile of sulfhydryl compounds in man. , 1986, The American journal of medicine.

[110]  C. Peterson,et al.  The effect of dietary protein on cystine excretion in patients with cystinuria. , 1984, Clinical nephrology.

[111]  K. Sakhaee,et al.  Contrasting effects of potassium citrate and sodium citrate therapies on urinary chemistries and crystallization of stone-forming salts. , 1983, Kidney International.

[112]  C. Pak,et al.  Assessment of cystine solubility in urine and of heterogeneous nucleation. , 1983, The Journal of urology.

[113]  J. G. Marshall,et al.  Free amino acid analysis of untimed and 24-h urine samples compared. , 1980, Clinical chemistry.

[114]  L. Watson,et al.  Treatment of Cystinuria , 1965, Revista clinica espanola.

[115]  J. L. Durant,et al.  Cystinuria: biochemical evidence for three genetically distinct diseases. , 1966, The Journal of clinical investigation.

[116]  R. Watts,et al.  Effect of Penicillamine on Cystinuria , 1963, British medical journal.