cystine and Adult Fanconi Syndrome

cystine has been researched along with Adult Fanconi Syndrome in 70 studies

Research

Studies (70)

Timeframe	Studies, this research(%)	All Research%
pre-1990	28 (40.00)	18.7374
1990's	9 (12.86)	18.2507
2000's	9 (12.86)	29.6817
2010's	14 (20.00)	24.3611
2020's	10 (14.29)	2.80

Authors

Authors	Studies
Grebe, J; Grüneberg, M; Harms, E; Klank, S; Marquardt, T; Ottolenghi, C; Reunert, J; van Stein, C	1
Berquez, M; Camassei, FD; Cremonesi, A; Devuyst, O; Dewulf, J; Emma, F; Festa, BP; Gerth-Kahlert, C; Hanson, JVM; Harvent, M; Krohn, P; Luciani, A; Rega, LR; Taranta, A	1
Canalini, F; Cassiman, D; Emma, F; Goffredo, BM; Levtchenko, E; Montini, G; Pennesi, M; Peruzzi, L; Rossi, S; Verrina, E	1
Gahl, WA; Haffner, D; Hohenfellner, K; Nießl, C; Oh, J; Okorn, C; Palm, K; Schlingmann, KP; Wygoda, S	1
Beck, BB; Bieniaś, B; Grenda, R; Kieć-Wilk, B; Kowalczyk, M; Marquardt, T; Nosek, H; Rubik, J; Sikora, P; Surowiec, P; Szymczak, M; Zaniew, M	1
Aase, SA; Bjerre, A; Brackman, D; Forsberg, B; Gudmundsdottir, H; Radtke, M; Siva, C; Woldseth, B	1
Azimpour, K; Carlot, S; Game, D; Lashilola, S; McCarthy, M; van der Voort, J; Xu, W	1
Anglicheau, D; Antignac, C; Boddaert, N; Boisgontier, J; Funalot, B; Hummel, A; Legendre, C; Lemaitre, H; Pontoizeau, C; Saitovitch, A; Sberro-Soussan, R; Scemla, A; Servais, A; Snanoudj, R	1
Topaloglu, R	1
Antignac, C; Ariceta, G; Bertholet-Thomas, A; Bettini, C; Bockenhauer, D; Collin, S; Cornelissen, E; Deschênes, G; Devuyst, O; Emma, F; Greco, M; Haffner, D; Hoff, WV; Hohenfellner, K; Hulton, S; Janssen, M; Levtchenko, E; Niaudet, P; Novo, R; Oh, J; Ozaltin, F; Pape, L; Ravà, L; Servais, A; Topaloglu, R; Veys, K	1
Brand, E; Canaan-Kuehl, S; Kaufeld, J; Kurschat, C; Oh, J; Pape, L; Weber, LT	1
Boukenter, A; Cambazard, F; Campolmi, N; Cinotti, E; Douchet, C; Espinasse, M; Gain, P; Labeille, B; Ouerdane, Y; Perrot, JL; Thuret, G	1
Antignac, C; Cherqui, S; Courtoy, PJ; Gaide Chevronnay, HP; Guiot, Y; Janssens, V; Levtchenko, E; Marbaix, E; N'Kuli, F; Nevo, N; Pierreux, CE; Van Der Smissen, P	1
Chevalier, RL	1
Bernardini, I; Gahl, WA; Nesterova, G; Williams, C	1
Barshop, BA; Deschênes, G; Emma, F; Goodyer, P; Langman, CB; Levtchenko, EN; Lipkin, G; Midgley, JP; Ottolenghi, C; Servais, A; Soliman, NA; Thoene, JG	1
Cherqui, S; Courtoy, PJ	1
Arevalo, JF; Kozak, I; Shoughy, SS	1
DeVilliers, P; Gutta, R; Szymela, VF	1
Dakshinamurty, KV; Prasad, N; Ram, R; Reddy, PN; Swarnalatha, G	1
Larsen, CP; Thoene, JG; Walker, PD	1
Alp, H; Çayır, A; Koşan, C; Özkan, B	1
Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S	1
Carrigg, A; Dohil, R; Newbury, R	1
Bagger, MJ; Cochat, P; Cornelissen, E; Deschênes, G; Gaillard, S; Greenbaum, LA; Grimm, P; Langman, CB; Matossian, D; Morin, D; Niaudet, P; Rioux, P; Sarwal, M	1
Buchan, B; Cairns, D; Kay, G; Matthews, KH	1
Cetinkaya, I; Harms, E; Herter, P; Hirsch, JR; Kleta, R; Schlatter, E	1
BICKEL, H	1
AUSSANNAIRE, M; CARAMANIAN, M; JAMMET, ML; LAMY, M	1
HOO, LK	1
SCHIAVINI, CA	1
ROBSON, EB; ROSE, GA	1
BAUZA, CA; CAILLABET, E; DRETS, ME; KORC, I; RAMON-GUERRA, AU; SOTO, JA; TEMESIO, N	1
FANCONI, G; PRADER, A	1
BAKX, CJ	1
DRABLOS, A	1
Blom, H; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, M	1
Ray, TL; Tobias, JD	1
Bernardini, I; Gahl, WA; Kleta, R; Krasnewich, D; Phornphutkul, C; Ueda, M; Varade, WS	1
Altay, C; Büyükasik, Y; Coskun, T; Erdemli, E; Kalkanoğlu, HS; Kesimer, M; Okur, H; Olcay, L	1
Bhartia, S; Bigley, V; Wood, A	1
Antignac, C; Chadefaux-Vekemans, B; Goujon, JM; Grünfeld, JP; Morinière, V; Noël, LH; Servais, A	1
Ajzen, H; Carvalhaes, JT; Mocelin, AJ; Nóbrega, FJ; Ramos, OL	1
Lemons, R; Thoene, JG	1
Baum, M; Sakarcan, A; Timmons, C	1
Bashan, N; Ben-Nun, A; Cohen-Luria, R; Moran, A; Potashnik, R	1
Igarashi, T	1
Kavukçu, S; Saatçi, O; Soylu, A; Türkmen, M	1
Ettenger, RB; Fine, RH; Kogut, MD; Malekzadeh, MH; Neustein, HB; Pennisi, AJ; Schneider, JA; Uittenbogaart, CH	1
Schneider, JA; Schulman, JD	1
Bernardini, I; Charnas, L; Dalakas, MC; Gahl, WA; Ishak, KG; Markello, TC	1
Baum, M; Coor, C; Marver, D; Quigley, R; Salmon, RF	1
Andersson, H; Fivush, BA; Gahl, WA; Racusen, LC	1
Benson, L; Foreman, JW	1
Baum, M; Salmon, RF	1
Adamson, MD; Andersson, HC; Gahl, WA	1
Bovee, KC; McNamara, PD; Rea, CT; Reynolds, RA; Segal, S	1
Bowring, MA; Foreman, JW; Lee, J; Segal, S; States, B	1
Blumberg, A; da Silva, VA; Lavanchy, P; Lüthy, CM; Oetliker, OH; Suter, H; Wyss, SR; Zurbrügg, RP	1
Gonick, HC; Kramer, HJ	1
Burgard, UG; Kramer, HJ	1
Genova, R	1
Schulman, JD	1
Becker, FL; Francke, U; Hammond, DS; Pellett, OL; Schneider, JA	1
Kroll, W; Lichte, KH	1
Spear, G	1
Dyszy-Laube, B; Kamińska, D; Kanabus, I; Korniszewski, L; Trzebiński, A	1
Savage, TR; Shirodaria, CV	1
Antener, I	1
Casey, TP	1

Reviews

9 review(s) available for cystine and Adult Fanconi Syndrome

Article	Year
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives. Cells, 2022, 06-04, Volume: 11, Issue:11 Topics: Biomarkers; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Quality of Life	2022
Nephropathic cystinosis: an update on genetic conditioning. Pediatric nephrology (Berlin, Germany), 2021, Volume: 36, Issue:6 Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Mutation	2021
[Cystinosis : Diagnosis, cystine-depleting therapy, and transition]. Der Internist, 2018, Volume: 59, Issue:8 Topics: Adult; Child; Child, Preschool; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans; Kidney; Lysosomes; Male; Quality of Life	2018
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nature reviews. Nephrology, 2017, Volume: 13, Issue:2 Topics: Crystallization; Cystine; Cystinosis; Fanconi Syndrome; Forecasting; Humans; Oxidative Stress	2017
[From gene to disease: cystinosis]. Nederlands tijdschrift voor geneeskunde, 2004, Mar-06, Volume: 148, Issue:10 Topics: Amino Acid Transport Systems, Neutral; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Gene Deletion; Glycoproteins; Humans; Membrane Proteins; Membrane Transport Proteins; Renal Insufficiency	2004
[Fanconi syndrome]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Acidosis; Amino Acids; Cystine; Cytochrome-c Oxidase Deficiency; Fanconi Syndrome; Fructose Intolerance; Galactosemias; Glycogen Storage Disease; Humans; Kidney Tubules, Proximal; Oculocerebrorenal Syndrome; Tyrosine	1998
Cystinosis and the Fanconi syndrome. Pediatric clinics of North America, 1976, Volume: 23, Issue:4 Topics: Adolescent; Child; Child, Preschool; Cystine; Cystinosis; Eye; Fanconi Syndrome; Fibroblasts; Humans; Infant; Kidney; Kidney Function Tests; Kidney Transplantation; Leukocytes; Prenatal Diagnosis; Transplantation, Homologous; Uremia	1976
Cystinosis. Seminars in nephrology, 1989, Volume: 9, Issue:2 Topics: Adult; Child; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney	1989
Cystinosis: a review of the different forms and of recent advances. Humangenetik, 1973, Volume: 20, Issue:2 Topics: Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Cystine; Cystinosis; Diet Therapy; Dithiothreitol; Fanconi Syndrome; Fibroblasts; Heterozygote; Humans; Hybrid Cells; Infant; Kidney Transplantation; Lymphocytes; Pedigree; Prenatal Diagnosis; Syndrome; Transplantation, Homologous	1973

Trials

2 trial(s) available for cystine and Adult Fanconi Syndrome

Article	Year
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients. Orphanet journal of rare diseases, 2011, Dec-23, Volume: 6 Topics: Adolescent; Adult; Body Weight; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Fanconi Syndrome; Female; Humans; Infant; Male; Nephrotic Syndrome; Radiation-Protective Agents; Treatment Outcome; Young Adult	2011
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clinical journal of the American Society of Nephrology : CJASN, 2012, Volume: 7, Issue:7 Topics: Adolescent; Adult; Child; Cross-Over Studies; Cysteamine; Cystine; Cystinosis; Delayed-Action Preparations; Fanconi Syndrome; Female; Humans; Leukocytes; Male; Nephrotic Syndrome; Young Adult	2012

Article

Year

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.

Orphanet journal of rare diseases, 2011, Dec-23, Volume: 6

Topics: Adolescent; Adult; Body Weight; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Dose-Response Relationship, Drug; Fanconi Syndrome; Female; Humans; Infant; Male; Nephrotic Syndrome; Radiation-Protective Agents; Treatment Outcome; Young Adult

2011

A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.

Clinical journal of the American Society of Nephrology : CJASN, 2012, Volume: 7, Issue:7

Topics: Adolescent; Adult; Child; Cross-Over Studies; Cysteamine; Cystine; Cystinosis; Delayed-Action Preparations; Fanconi Syndrome; Female; Humans; Leukocytes; Male; Nephrotic Syndrome; Young Adult

2012

Other Studies

59 other study(ies) available for cystine and Adult Fanconi Syndrome

Article	Year
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis. Orphanet journal of rare diseases, 2021, 09-14, Volume: 16, Issue:1 Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Quality of Life; Retrospective Studies	2021
Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis. Human molecular genetics, 2022, 07-07, Volume: 31, Issue:13 Topics: Amino Acid Transport Systems, Neutral; Animals; Autophagy; Cystine; Cystinosis; Fanconi Syndrome; Lysosomes; Mice; Rats; Renal Insufficiency	2022
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. Molecular genetics and metabolism, 2022, Volume: 136, Issue:4 Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Infant; Infant, Newborn; Kidney	2022
Nephropathic cystinosis in Poland: a 40-year retrospective study. Polish archives of internal medicine, 2022, 11-25, Volume: 132, Issue:11 Topics: Adult; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Poland; Retrospective Studies; Young Adult	2022
The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study. Pediatric nephrology (Berlin, Germany), 2023, Volume: 38, Issue:11 Topics: Adult; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Retrospective Studies	2023
Impact of compliance to oral cysteamine treatment on the costs of Kidney failure in patients with nephropathic cystinosis in the United Kingdom. BMC nephrology, 2023, Nov-29, Volume: 24, Issue:1 Topics: Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Patient Compliance; Renal Dialysis; Renal Insufficiency; United Kingdom	2023
Central nervous system complications in adult cystinosis patients. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2 Topics: Adolescent; Adult; Aged; Case-Control Studies; Central Nervous System Diseases; Cerebrovascular Circulation; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Female; Gray Matter; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Young Adult	2020
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney international, 2021, Volume: 100, Issue:5 Topics: Adult; Child, Preschool; Cohort Studies; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans	2021
Optical diagnosis of a metabolic disease: cystinosis. Journal of biomedical optics, 2013, Volume: 18, Issue:4 Topics: Adult; Cornea; Cystine; Fanconi Syndrome; Female; Humans; Microscopy, Confocal; Optical Imaging; Skin; Spectrum Analysis, Raman	2013
Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys. Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:6 Topics: Adaptation, Physiological; Amino Acid Transport Systems, Neutral; Animals; Apoptosis; Cell Proliferation; Crystallization; Cystine; Cystinosis; Disease Models, Animal; Disease Progression; Endocytosis; Fanconi Syndrome; Kidney Tubules, Proximal; Low Density Lipoprotein Receptor-Related Protein-2; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Proteinuria; Receptors, Cell Surface; Vacuoles	2014
The proximal tubule in cystinosis: fight or flight? Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:6 Topics: Adaptation, Physiological; Amino Acid Transport Systems, Neutral; Animals; Cystine; Cystinosis; Fanconi Syndrome; Humans; Inflammasomes; Kidney Tubules, Proximal; Leukocytes, Mononuclear; Renal Insufficiency, Chronic	2014
Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy. Pediatric nephrology (Berlin, Germany), 2015, Volume: 30, Issue:6 Topics: Administration, Oral; Adolescent; Adult; Age Factors; Biomarkers; Child; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney; Kidney Failure, Chronic; Kidney Function Tests; Leukocytes; Linear Models; Male; Maximum Tolerated Dose; Medication Adherence; Middle Aged; Retrospective Studies; Risk Factors; Time Factors; Treatment Outcome; Young Adult	2015
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney international, 2016, Volume: 89, Issue:6 Topics: Adolescent; Adult; Age Factors; Amino Acid Transport Systems, Neutral; Child; Congresses as Topic; Cysteamine; Cystine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Genetic Testing; Genetic Therapy; Graft vs Host Disease; Hematopoietic Stem Cell Transplantation; Humans; Immunosuppression Therapy; Infant; Kidney Failure, Chronic; Kidney Transplantation; Lysosomes; Mutation; Rare Diseases; Renal Dialysis	2016
Intraretinal Crystals in Nephopathic Cystinosis and Fanconi Syndrome. JAMA ophthalmology, 2017, 03-09, Volume: 135, Issue:3 Topics: Adolescent; Corneal Diseases; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Nephrotic Syndrome; Retinal Diseases; Slit Lamp; Tomography, Optical Coherence; Vision Disorders; Visual Acuity	2017
Cystinosis, Fanconi syndrome, and odontogenic cysts. Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics, 2008, Volume: 106, Issue:6 Topics: Adult; Cystine; Cystinosis; Dentigerous Cyst; Fanconi Syndrome; Humans; Male; Mandibular Diseases; Renal Insufficiency	2008
Quiz page. Fanconi syndrome caused by cystinosis, intermediate type. American journal of kidney diseases : the official journal of the National Kidney Foundation, 2009, Volume: 54, Issue:6 Topics: Adult; Cysteamine; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Nephritis, Interstitial; Radiation-Protective Agents; Sjogren's Syndrome	2009
The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies. Molecular genetics and metabolism, 2010, Volume: 101, Issue:4 Topics: Adolescent; Adult; Apoptosis; Biopsy; Child; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney Failure, Chronic; Kidney Glomerulus; Kidney Tubules; Male; Nephrons; Nephrotic Syndrome; Young Adult	2010
Cystinosis presenting with findings of Bartter syndrome. Journal of clinical research in pediatric endocrinology, 2011, Volume: 3, Issue:2 Topics: Acidosis; Bartter Syndrome; Child, Preschool; Cornea; Crystallization; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Humans; Male; Nephrotic Syndrome	2011
A potential new method to estimate tissue cystine content in nephropathic cystinosis. The Journal of pediatrics, 2012, Volume: 161, Issue:3 Topics: Adolescent; Child; Child, Preschool; Crystallization; Cystine; Cystinosis; Endoscopy, Gastrointestinal; Fanconi Syndrome; Female; Glomerular Filtration Rate; Histiocytes; Humans; Immunohistochemistry; Intestinal Mucosa; Male; Nephrotic Syndrome; Sigmoidoscopy	2012
Suppository formulations as a potential treatment for nephropathic cystinosis. Journal of pharmaceutical sciences, 2012, Volume: 101, Issue:10 Topics: Chemistry, Pharmaceutical; Cysteamine; Cystine; Cystinosis; Drug Stability; Excipients; Fanconi Syndrome; Nephrotic Syndrome; Polyethylene Glycols; Solubility; Suppositories	2012
Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis. Journal of the American Society of Nephrology : JASN, 2002, Volume: 13, Issue:8 Topics: Alanine; Amino Acid Transport Systems, Neutral; Cell Line; Cystine; Electrophysiology; Fanconi Syndrome; Humans; Kidney; Osmolar Concentration; Patch-Clamp Techniques; Phosphates; Propionates; Sodium-Phosphate Cotransporter Proteins; Symporters	2002
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease. Acta paediatrica, 1953, Volume: 42, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Cystinosis; Dwarfism; Fanconi Syndrome; Metabolic Diseases; Urine	1953
[Cystinosis with de Toni-Debré-Fanconi syndrome; clinical and biological study]. Archives francaises de pediatrie, 1954, Volume: 11, Issue:8 Topics: Cystine; Cystinosis; Fanconi Syndrome; Humans; Metabolic Diseases	1954
[Contribution to Lignac-Fanconi disease or Debré-de Toni-Fanconi syndrome]. Maandschrift voor kindergeneeskunde, 1956, Volume: 24, Issue:2 Topics: Cystine; Dwarfism; Fanconi Syndrome; Humans; Metabolic Diseases	1956
[Cystinuria, cystinosis, and De Toni-Debré-Fanconi disease]. Pediatrie, 1956, Volume: 11, Issue:2 Topics: Cystine; Cystinosis; Cystinuria; Dwarfism; Fanconi Syndrome; Metabolic Diseases	1956
The effect of intravenous lysine on the renal clearances of cystine, arginine and ornithine in normal subjects, in patients with cystinuria and Fanconi syndrome and in their relatives. Clinical science, 1957, Volume: 16, Issue:1 Topics: Amino Acids; Arginine; Cystine; Cystinuria; Fanconi Syndrome; Humans; Lysine; Metabolic Diseases; Ornithine	1957
[De Toni-Debre-Fanconi syndromes]. Archivos de pediatria del Uruguay, 1961, Volume: 32 Topics: Cystine; Fanconi Syndrome; Humans; Metabolic Diseases	1961
[Gluco-amino-phosphate-diabetes (De Toni-Debre-Fanconi syndrome) and disorder of cystine metabolism]. Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1962, Volume: 17 Topics: Cystine; Cystinosis; Diabetes Mellitus; Fanconi Syndrome; Humans; Hypophosphatemia, Familial; Metabolic Diseases; Phosphates	1962
[Renal rickets, renal diabetes and cystine metabolism; the De Toni-Fanconi-Debré syndrome]. Nederlands tijdschrift voor geneeskunde, 1950, Aug-12, Volume: 94, Issue:32 Topics: Chronic Kidney Disease-Mineral and Bone Disorder; Cystine; Diabetes Mellitus; Dwarfism; Fanconi Syndrome; Humans	1950
The de Toni-Fanconi syndrome with cystinosis. Acta paediatrica, 1951, Volume: 40, Issue:5 Topics: Chronic Kidney Disease-Mineral and Bone Disorder; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney; Rickets	1951
Perioperative care of the patient with nephropathic cystinosis. Paediatric anaesthesia, 2004, Volume: 14, Issue:10 Topics: Anesthesia, General; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Infant; Kidney Diseases; Molar, Third; Oral Surgical Procedures; Perioperative Care; Photophobia; Renal Insufficiency; Tooth, Impacted; Water-Electrolyte Balance	2004
Long-term follow-up of well-treated nephropathic cystinosis patients. The Journal of pediatrics, 2004, Volume: 145, Issue:4 Topics: Cysteamine; Cystine; Fanconi Syndrome; Female; Follow-Up Studies; Glomerular Filtration Rate; Growth Disorders; Humans; Infant; Infant, Newborn; Male; Time Factors; Treatment Outcome	2004
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation. Journal of clinical pathology, 2005, Volume: 58, Issue:9 Topics: Adolescent; Bleeding Time; Blood Platelets; Child; Cystine; Cystinosis; Cytoplasmic Granules; Fanconi Syndrome; Female; Humans; Infant; Male; Microscopy, Electron; Platelet Aggregation; Platelet Function Tests	2005
Nephropathic cystinosis with bone marrow involvement. British journal of haematology, 2007, Volume: 136, Issue:2 Topics: Adult; Crystallization; Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Kidney Diseases; Kidney Tubules; Macrophages	2007
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clinical journal of the American Society of Nephrology : CJASN, 2008, Volume: 3, Issue:1 Topics: Adolescent; Adult; Age of Onset; Biopsy; Child; Cornea; Crystallization; Cystine; Cystinosis; Family Health; Fanconi Syndrome; Female; Genotype; Glomerular Filtration Rate; Granulocytes; Humans; Kidney; Male; Microscopy, Electron; Middle Aged; Severity of Illness Index	2008
[Renal transplantation in cystinosis. Report of a case]. AMB : revista da Associacao Medica Brasileira, 1980, Volume: 26, Issue:5 Topics: Child; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Transplantation, Homologous	1980
Cystine depletion of cystinotic tissues by phosphocysteamine (WR638). The Journal of pediatrics, 1980, Volume: 96, Issue:6 Topics: Child; Cystaphos; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Fibroblasts; Humans; Male; Organothiophosphorus Compounds	1980
Intracellular distribution of cystine in cystine-loaded proximal tubules. Pediatric research, 1994, Volume: 35, Issue:4 Pt 1 Topics: Animals; Cell Compartmentation; Cysteine; Cystine; Fanconi Syndrome; Kidney Tubules, Proximal; Lysosomes; Oxygen Consumption; Rabbits; Subcellular Fractions; Tissue Distribution	1994
Cystine loading induces Fanconi's syndrome in rats: in vivo and vesicle studies. The American journal of physiology, 1993, Volume: 265, Issue:6 Pt 2 Topics: Adenosine Triphosphate; Animals; Cell Line; Cell Membrane; Cystine; Fanconi Syndrome; Kidney; Male; Monosaccharide Transport Proteins; Phlorhizin; Rats; Rats, Inbred Strains; Sodium; Sodium-Potassium-Exchanging ATPase	1993
Clinical quiz. Fanconi syndrome. Pediatric nephrology (Berlin, Germany), 1998, Volume: 12, Issue:8 Topics: Child, Preschool; Cystine; Fanconi Syndrome; Humans; Leukocytes; Male; Radiography, Abdominal	1998
Cadaver renal transplantation in children with cystinosis. The American journal of medicine, 1977, Volume: 63, Issue:4 Topics: Bone Diseases; Cadaver; Child; Cystine; Cystinosis; Fanconi Syndrome; Female; Growth; Hepatomegaly; Humans; Hypothyroidism; Kidney; Kidney Glomerulus; Kidney Transplantation; Male; Splenomegaly; Transplantation, Homologous	1977
Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochemical medicine and metabolic biology, 1992, Volume: 48, Issue:3 Topics: Adolescent; Child; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Humans; Infant; Kidney; Kidney Diseases; Liver; Lung; Male; Microscopy, Electron, Scanning; Muscles; Pancreas; Spleen	1992
Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. The Journal of clinical investigation, 1991, Volume: 87, Issue:3 Topics: Adenosine Triphosphate; Animals; Biological Transport; Cystine; Cystinosis; Ethylmaleimide; Fanconi Syndrome; In Vitro Techniques; Kidney Tubules, Proximal; Oligomycins; Rabbits; Sodium-Potassium-Exchanging ATPase; Vanadates	1991
Culture of renal tubular cells from the urine of patients with nephropathic cystinosis. Journal of the American Society of Nephrology : JASN, 1991, Volume: 1, Issue:8 Topics: Cells, Cultured; Cystine; Cystinosis; Epithelium; Fanconi Syndrome; Humans; Kidney Tubules; Urine	1991
Effect of cystine loading and cystine dimethylester on renal brushborder membrane transport. Bioscience reports, 1990, Volume: 10, Issue:5 Topics: Animals; Biological Transport; Cells, Cultured; Cystine; Cystinosis; Fanconi Syndrome; Kidney Tubules; Male; Microvilli; Proline; Rats; Rats, Inbred Strains	1990
Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule. The Journal of clinical investigation, 1990, Volume: 85, Issue:2 Topics: Animals; Biological Transport, Active; Cystine; Cystinosis; Fanconi Syndrome; Female; In Vitro Techniques; Kidney Tubules, Proximal; Leucine; Perfusion; Permeability; Rabbits; Tryptophan	1990
Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in basenji dogs to isolated cystinuria. Metabolism: clinical and experimental, 1989, Volume: 38, Issue:1 Topics: Amino Acids; Animals; Biological Transport; Cystine; Cystinuria; Disease Models, Animal; Dogs; Fanconi Syndrome; Female; Glomerular Filtration Rate; Glucose; Kidney; Kinetics; Male; Microvilli; Sodium	1989
Effect of cystine dimethylester on renal solute handling and isolated renal tubule transport in the rat: a new model of the Fanconi syndrome. Metabolism: clinical and experimental, 1987, Volume: 36, Issue:12 Topics: Amino Acids; Animals; Cystine; Cystinosis; Disease Models, Animal; Fanconi Syndrome; Humans; Kidney Tubules, Proximal; Male; Methylglucosides; Rats; Rats, Inbred Strains	1987
Long-term treatment of infantile nephropathic cystinosis with cysteamine. The New England journal of medicine, 1985, Dec-05, Volume: 313, Issue:23 Topics: Bone Marrow; Child; Child, Preschool; Cysteamine; Cystine; Cystinosis; Fanconi Syndrome; Growth; Humans; Infant; Infant, Newborn; Kidney Failure, Chronic; Leukocytes; Male	1985
Experimental Fanconi syndrome. I. Effect of maleic acid on renal cortical Na-K-ATPase activity and ATP levels. The Journal of laboratory and clinical medicine, 1970, Volume: 76, Issue:5 Topics: Adenosine Triphosphatases; Adenosine Triphosphate; Animals; Cystine; Edetic Acid; Enzyme Activation; Fanconi Syndrome; Female; Glycosuria; Injections, Intraperitoneal; Kidney; Kidney Tubules; Maleates; Organ Size; Potassium; Proteinuria; Rats; Sodium; Succinate Dehydrogenase	1970
Further studies on epithelial transport defect in experimental and human Fanconi syndrome. Effects of maleic acid and L-cystine on sodium transport and (Na+-K+)-ATPase of the isolated frog skin. Clinica chimica acta; international journal of clinical chemistry, 1974, Aug-30, Volume: 55, Issue:1 Topics: Abdomen; Adenosine Triphosphatases; Animals; Biological Transport, Active; Cystine; Depression, Chemical; Fanconi Syndrome; Magnesium; Maleates; Membrane Potentials; Osmolar Concentration; Potassium; Rana esculenta; Rats; Skin; Sodium	1974
[On a case of cystine thesaurismosis]. Minerva pediatrica, 1974, Nov-10, Volume: 26, Issue:35 Topics: Amino Acids; Bone Marrow; Bone Marrow Examination; Child, Preschool; Chromatography, Gas; Cornea; Cystine; Cystinosis; Fanconi Syndrome; Humans; Kidney Diseases; Kidney Tubules; Male; Radioisotope Renography; Radionuclide Imaging	1974
Cystinosis. Birth defects original article series, 1974, Volume: 10, Issue:4 Topics: Child; Conjunctiva; Cystine; Cystinosis; Fanconi Syndrome; Genotype; Humans; Kidney; Lysosomes; Phenotype	1974
Properties of cystinotic fibroblast-D98 cell hybrids studied by somatic cell hybridization. Nature, 1973, Aug-03, Volume: 244, Issue:5414 Topics: Cell Line; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Clone Cells; Cystine; Cystinosis; Fanconi Syndrome; Female; Fibroblasts; Glucosephosphate Dehydrogenase; Humans; Hybrid Cells; Hypoxanthines; Isoenzymes; Karyotyping; Syndrome	1973
The proximal tubule and the podocyte in cystinosis. Nephron, 1973, Volume: 10, Issue:1 Topics: Child, Preschool; Cystine; Cystinosis; Epithelial Cells; Fanconi Syndrome; Female; Humans; Kidney Tubules; Kidney Tubules, Proximal; Male; Microscopy; Microscopy, Electron; Syndrome	1973
[Infantile form of cystinosis]. Pediatria polska, 1972, Volume: 47, Issue:5 Topics: Age Factors; Cystine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Female; Humans; Infant; Male	1972
Idiopathic Fanconi syndrome without cystinosis. Proceedings of the Royal Society of Medicine, 1969, Volume: 62, Issue:11 Part 1 Topics: Bone Marrow; Citrates; Cornea; Cystine; Ergocalciferols; Fanconi Syndrome; Female; Glycosuria; Humans; Infant; Rickets; Uric Acid	1969
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics]. Zeitschrift fur klinische Chemie und klinische Biochemie, 1970, Sep-08, Volume: 7, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias	1970
Cystine storage disease. A case report with a note on the extraction of cystine from formalin-fixed tissues. Australasian annals of medicine, 1966, Volume: 15, Issue:1 Topics: Cystine; Cystinosis; Fanconi Syndrome; Female; Humans; Infant	1966