Compounds > cysteamine
Page last updated: 2024-08-17

cysteamine and Adult Fanconi Syndrome

cysteamine has been researched along with Adult Fanconi Syndrome in 62 studies

Research

Studies (62)

TimeframeStudies, this research(%)All Research%
pre-19906 (9.68)18.7374
1990's2 (3.23)18.2507
2000's12 (19.35)29.6817
2010's24 (38.71)24.3611
2020's18 (29.03)2.80

Authors

AuthorsStudies
Cairns, D; Di Salvo, A; Kay, G; Knott, RM; Omran, Z1
Cairns, D; Hector, EE; Kay, G; Knott, RM; Omran, Z1
Benylles, A; Cairns, D; Kay, G; Knott, RM; Moloney, KA; Omran, Z1
Grebe, J; Grüneberg, M; Harms, E; Klank, S; Marquardt, T; Ottolenghi, C; Reunert, J; van Stein, C1
Abouelwoun, II; Atia, FM; Elkhateeb, N; Elmonem, MA; Helmy, R; Selim, R; Soliman, NA1
Acham-Roschitz, B; Arbeiter, K; Billing, H; Büscher, A; Haffner, D; Hagenberg, M; Hohenfellner, K; Jagodzinski, C; Kanzelmeyer, N; Kemper, MJ; Kluck, R; Müller, S; Oh, J; Pavičić, L; Thumfart, J; Tönshoff, B; Weber, LT; Zivicnjak, M1
Ariceta, G; Elenberg, E; Hohenfellner, K; Nesterova, G; Soliman, NA; Topaloglu, R1
Canalini, F; Cassiman, D; Emma, F; Goffredo, BM; Levtchenko, E; Montini, G; Pennesi, M; Peruzzi, L; Rossi, S; Verrina, E1
Acham-Roschitz, B; Arbeiter, K; Bald, M; Benz, M; Billing, H; Boulesteix, AL; Buescher, A; Gahl, WA; Galiano, M; Haffner, D; Hohenfellner, K; Hoppe, B; John-Kroegel, U; Kettwig, M; Klaus, G; Marx-Berger, D; Moeller, K; Moser, K; Mueller, D; Nießl, C; Oh, J; Palm, K; Patzer, L; Pohl, M; Schlingmann, P; Seitz, B; Tönshoff, B; Treikauskas, U; von Vigier, RO; Wühl, E; Wygoda, S; Zirngibl, M1
Gahl, WA; Haffner, D; Hohenfellner, K; Nießl, C; Oh, J; Okorn, C; Palm, K; Schlingmann, KP; Wygoda, S1
Beck, BB; Bieniaś, B; Grenda, R; Kieć-Wilk, B; Kowalczyk, M; Marquardt, T; Nosek, H; Rubik, J; Sikora, P; Surowiec, P; Szymczak, M; Zaniew, M1
Ariceta, G; Awan, A; Besouw, M; Bockenhauer, D; Haffner, D; Harms, E; Hohenfellner, K; Janssen, MCH; Kanzelmeyer, N; Levtchenko, E; Niaudet, P; Novo, R; Pape, L; Servais, A; Sikora, P; Topaloglu, R; van den Heuvel, B; Veys, K; Wühl, E; Zadora, W1
Aase, SA; Bjerre, A; Brackman, D; Forsberg, B; Gudmundsdottir, H; Radtke, M; Siva, C; Woldseth, B1
Langman, CB1
Azimpour, K; Carlot, S; Game, D; Lashilola, S; McCarthy, M; van der Voort, J; Xu, W1
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, R1
Kasimer, RN; Langman, CB1
Dixon, AM; Straatmann, C; Styres, C1
Topaloglu, R1
Acquaviva-Bourdain, C; Bacchetta, J; Bertholet-Thomas, A; Bodénan, E; Cochat, P; Deschênes, G; Gaillard, S; Kassai, B; Laudy, V; Lemoine, S; Mercier, C; Morin, D; Nony, P; Ranchin, B; Roche, L; Rouges, C; Subtil, F; Vianey-Saban, C; Zarrabian, S1
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, K1
Hemels, M; Karabis, A; Medic, G; van der Weijden, M1
Higashi, S; Ito, S; Matsunoshita, N; Nozu, K; Otani, M; Tokuhiro, E1
Brand, E; Canaan-Kuehl, S; Kaufeld, J; Kurschat, C; Oh, J; Pape, L; Weber, LT1
Ariceta, G; Awan, A; Bacchetta, J; Bechtold, S; Bergmann, C; Cassidy, N; Deschenes, G; Elenberg, E; Gahl, WA; Greil, O; Haffner, D; Harms, E; Herzig, N; Hohenfellner, K; Hoppe, B; Koeppl, C; Levtchenko, E; Lewis, MA; Nesterova, G; Rauch, F; Santos, F; Schlingmann, KP; Servais, A; Soliman, NA; Steidle, G; Sweeney, C; Topaloglu, R; Treikauskas, U; Tsygin, A; V Vigier, R; Veys, K; Zustin, J1
Trauner, DA; Viltz, L1
Besouw, MT; Cornelissen, EA; De Paepe, A; Desmet, K; Emma, F; Greco, M; Janssen, MC; Levtchenko, EN; Lilien, MR; Malfait, F; Nobili, F; Schneider, J; Skovby, F; Symoens, S; van den Heuvel, LP1
Bernardini, I; Gahl, WA; Nesterova, G; Williams, C1
Besouw, MT; Casteels, I; Dyck, MV; Levtchenko, EN; Pinxten, AM; Veys, KR1
Bertholet-Thomas, A; Choukroun, G; Decramer, S; Goizet, C; Llanas, B; Novo, R; Servais, A1
Sankawa, J1
Berryhill, A; Bhamre, S; Chaudhuri, A; Concepcion, W; Grimm, PC1
Bultynck, G; De Smedt, H; Elmonem, MA; Ivanova, EA; Levtchenko, EN; Mekahli, D; Missiaen, L; Pastore, A; van den Heuvel, LP1
Barshop, BA; Deschênes, G; Emma, F; Goodyer, P; Langman, CB; Levtchenko, EN; Lipkin, G; Midgley, JP; Ottolenghi, C; Servais, A; Soliman, NA; Thoene, JG1
Bäumner, S; Weber, LT1
Bazaraa, H; El-Baroudy, R; Rizk, A; Soliman, NA; Younan, A1
Dimitriou, E; Emma, F; Karavitakis, EM; Kosma, K; Michelakakis, H; Xaidara, A1
Dakshinamurty, KV; Prasad, N; Ram, R; Reddy, PN; Swarnalatha, G1
Brugnara, M; Emma, F; Greco, M; Pastore, A; Taranta, A; Zaffanello, M1
Lund, AM; Oczachowska-Kulik, AE; Pedersen, EB; Skovby, F1
Antignac, C; Brodin-Sartorius, A; Charbit, M; Cochat, P; Guest, G; Legendre, C; Lesavre, P; Moyse, D; Niaudet, P; Ottolenghi, C; Servais, A; Tête, MJ1
Bouazza, N; Chadefaux-Vekemans, B; Deschenes, G; Niaudet, P; Ottolenghi, C; Ricquier, D; Tréluyer, JM; Urien, S1
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, M1
Buchan, B; Cairns, D; Kay, G; Matthews, KH1
Cabrera, BL; Dohil, R1
Geelen, JM; Levtchenko, EN; Monnens, LA1
Blom, H; de Graaf-Hess, AC; Levtchenko, EN; Monnens, LA; van den Heuvel, LP; Wilmer, M1
Bernardini, I; Gahl, WA; Kleta, R; Krasnewich, D; Phornphutkul, C; Ueda, M; Varade, WS1
Gahl, WA; Kleta, R1
Levtchenko, E; Monnens, L1
Kleta, R1
Balog, JZ; Gahl, WA; Kleta, R1
Gahl, W; Nesterova, G1
Lemons, R; Thoene, JG1
Dionisi-Vici, C; Federici, G; Greco, M; Pastore, A; Ribes, A; Rizzo, C; Rizzoni, G1
Blom, HJ; de Graaf-Hess, A; Levtchenko, EN; Monnens, LA1
Case, L; De Vecchi, A; Edefonti, A; Gaboardi, F; Graziani, G1
Crocker, JF; DeWolfe, MS; Girardin, EP1
Bernardini, I; Charnas, L; Dalakas, MC; Gahl, WA; Ishak, KG; Markello, TC1
Bernar, J; Bernardini, I; Dalakas, M; Gahl, WA; Harper, GS; Hoeg, JM; Hurko, O; Rizzo, WB1
Blumberg, A; da Silva, VA; Lavanchy, P; Lüthy, CM; Oetliker, OH; Suter, H; Wyss, SR; Zurbrügg, RP1
Schneider, JA1

Reviews

13 review(s) available for cysteamine and Adult Fanconi Syndrome

ArticleYear
Newborn Screening: Review of its Impact for Cystinosis.
    Cells, 2022, 03-25, Volume: 11, Issue:7

    Topics: Adult; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant, Newborn; Neonatal Screening; Pilot Projects

2022
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
Adult complications of nephropathic cystinosis: a systematic review.
    Pediatric nephrology (Berlin, Germany), 2021, Volume: 36, Issue:2

    Topics: Adult; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Transplantation

2021
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
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.
    Current medical research and opinion, 2017, Volume: 33, Issue:11

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Randomized Controlled Trials as Topic

2017
[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
Cystinosis: a new perspective.
    Acta clinica Belgica, 2016, Volume: 71, Issue:3

    Topics: Child; Child, Preschool; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant; Kidney Transplantation

2016
[Cystinosis in adults: A systemic disease].
    Nephrologie & therapeutique, 2015, Volume: 11, Issue:3

    Topics: Adolescent; Adult; Cysteamine; Cystine Depleting Agents; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Transplantation; Renal Insufficiency

2015
[Improved prognosis of cystinosis achieved by treatment with cysteamine and by kidney transplantation].
    Ugeskrift for laeger, 2011, Aug-15, Volume: 173, Issue:33

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Transplantation; Prognosis; Treatment Outcome

2011
[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
Pharmacological treatment of nephropathic cystinosis with cysteamine.
    Expert opinion on pharmacotherapy, 2004, Volume: 5, Issue:11

    Topics: Administration, Oral; Adolescent; Adult; Child; Child, Preschool; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant

2004
Nephropathic cystinosis: late complications of a multisystemic disease.
    Pediatric nephrology (Berlin, Germany), 2008, Volume: 23, Issue:6

    Topics: Administration, Oral; Adolescent; Adult; Child; Cysteamine; Cystinosis; Disease Progression; Fanconi Syndrome; Genetic Predisposition to Disease; Humans; Kidney Failure, Chronic; Kidney Transplantation; Life Expectancy; Male; Middle Aged; Severity of Illness Index; Treatment Outcome

2008
[Fanconi syndrome].
    Minerva medica, 1979, Oct-13, Volume: 70, Issue:44

    Topics: Acidosis; Adolescent; Bence Jones Protein; beta 2-Microglobulin; Child; Child, Preschool; Cysteamine; Dithiothreitol; Fanconi Syndrome; Glycosuria; Humans; Hypophosphatasia; Kidney; Kidney Transplantation; Male; Rickets

1979

Trials

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

ArticleYear
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

47 other study(ies) available for cysteamine and Adult Fanconi Syndrome

ArticleYear
PEGylated derivatives of cystamine as enhanced treatments for nephropathic cystinosis.
    Bioorganic & medicinal chemistry letters, 2011, Jan-01, Volume: 21, Issue:1

    Topics: Cells, Cultured; Cystamine; Cystinosis; Fanconi Syndrome; Fibroblasts; Humans; Nephrotic Syndrome; Polyethylene Glycols; Prodrugs

2011
Folate pro-drug of cystamine as an enhanced treatment for nephropathic cystinosis.
    Bioorganic & medicinal chemistry letters, 2011, Apr-15, Volume: 21, Issue:8

    Topics: Administration, Oral; Cell Line; Cystamine; Cystinosis; Fanconi Syndrome; Humans; Nephrotic Syndrome; Prodrugs

2011
Synthesis and in vitro evaluation of novel pro-drugs for the treatment of nephropathic cystinosis.
    Bioorganic & medicinal chemistry, 2011, Jun-01, Volume: 19, Issue:11

    Topics: Cystamine; Cystinosis; Fanconi Syndrome; Fibroblasts; Glutarates; Humans; Nephrotic Syndrome; Prodrugs; Succinic Acid

2011
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
Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.
    Pediatric nephrology (Berlin, Germany), 2022, Volume: 37, Issue:7

    Topics: Adolescent; Child; Cohort Studies; Cysteamine; Cystinosis; Fanconi Syndrome; Female; Humans; Male; Muscular Diseases

2022
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2

    Topics: Adipose Tissue; Adolescent; Arm; Child; Child, Preschool; Cysteamine; Cystinosis; Fanconi Syndrome; Female; Growth Hormone; Humans; Male; Prospective Studies; Renal Insufficiency, Chronic

2022
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
    Molecular genetics and metabolism, 2022, Volume: 136, Issue:4

    Topics: Child; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant; Infant, Newborn; Kidney

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
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
    Journal of inherited metabolic disease, 2023, Volume: 46, Issue:1

    Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant, Newborn; Kidney Failure, Chronic; Retrospective Studies; Siblings; Young Adult

2023
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
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").
    Orphanet journal of rare diseases, 2023, Jun-23, Volume: 18, Issue:1

    Topics: Capsules; Cysteamine; 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 Infant With Vomiting, Constipation, and Weight Loss.
    Clinical pediatrics, 2020, Volume: 59, Issue:6

    Topics: Calcitriol; Citric Acid; Constipation; Cysteamine; Cystinosis; Diagnosis, Differential; Fanconi Syndrome; Humans; Infant; Male; Phosphorus; Potassium; Sodium; Sodium Citrate; Vomiting; Weight Loss

2020
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.
    Pediatric nephrology (Berlin, Germany), 2021, Volume: 36, Issue:3

    Topics: Adolescent; Adult; Child; Child, Preschool; Cysteamine; Cystinosis; Electronics; Fanconi Syndrome; Female; Humans; Male; Prospective Studies; Young Adult

2021
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
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.
    BMC nephrology, 2017, Sep-26, Volume: 18, Issue:1

    Topics: Child; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Male; Nephrotic Syndrome; Slit Lamp Microscopy

2017
Management of bone disease in cystinosis: Statement from an international conference.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:5

    Topics: Administration, Oral; Bone Diseases; Cysteamine; Cystinosis; Disease Management; Fanconi Syndrome; Female; Humans; Male

2019
Effect of age at treatment on cognitive performance in patients with cystinosis.
    The Journal of pediatrics, 2013, Volume: 163, Issue:2

    Topics: Adolescent; Age Factors; Child; Child, Preschool; Cognition; Cognition Disorders; Cysteamine; Fanconi Syndrome; Humans; Young Adult

2013
Copper deficiency in patients with cystinosis with cysteamine toxicity.
    The Journal of pediatrics, 2013, Volume: 163, Issue:3

    Topics: Adenosine Triphosphatases; Adolescent; Adult; Biomarkers; Cation Transport Proteins; Ceruloplasmin; Child; Child, Preschool; Collagen; Collagen Type I; Collagen Type I, alpha 1 Chain; Copper; Copper Transporter 1; Copper-Transporting ATPases; Cysteamine; Cystinosis; Fanconi Syndrome; Female; Genetic Markers; Humans; Male; Polymorphism, Genetic; Protective Agents; Protein-Lysine 6-Oxidase; Renal Agents; Sequence Analysis, DNA; Young Adult

2013
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
[Quality of life improves].
    MMW Fortschritte der Medizin, 2015, Jul-23, Volume: 157, Issue:13

    Topics: Administration, Oral; Child; Child, Preschool; Cysteamine; Cystinosis; Delayed-Action Preparations; Fanconi Syndrome; Humans; Microspheres; Quality of Life

2015
Cysteamine in renal transplantation: A report of two patients with nephropathic cystinosis and the successful re-initiation of cysteamine therapy during the immediate post-transplant period.
    Pediatric transplantation, 2016, Volume: 20, Issue:1

    Topics: Adolescent; Child; Corneal Diseases; Cysteamine; Cystinosis; Drug Administration Schedule; Fanconi Syndrome; Female; Humans; Immunosuppression Therapy; Immunosuppressive Agents; Inpatients; Kidney Transplantation; Male; Postoperative Period; Renal Insufficiency; Tacrolimus; Treatment Outcome

2016
Altered mTOR signalling in nephropathic cystinosis.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:3

    Topics: Amino Acid Transport Systems, Neutral; Autophagy; Cells, Cultured; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Kidney Failure, Chronic; Kidney Tubules, Proximal; Lysosomes; Mechanistic Target of Rapamycin Complex 1; Signal Transduction

2016
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
Conversion from immediate- to extended-release cysteamine may decrease disease control and increase additional side effects.
    Pediatric nephrology (Berlin, Germany), 2017, Volume: 32, Issue:7

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Retrospective Studies

2017
Nephropathic cystinosis in children: An overlooked disease.
    Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2009, Volume: 20, Issue:3

    Topics: Administration, Oral; Administration, Topical; Child; Child, Preschool; Cornea; Corneal Diseases; Cysteamine; Cystinosis; Diagnostic Techniques, Ophthalmological; Disease Progression; Fanconi Syndrome; Female; Humans; Infant; Kidney Failure, Chronic; Male; Medication Adherence; Ophthalmic Solutions; Predictive Value of Tests; Severity of Illness Index; Treatment Outcome

2009
Chitotriosidase plasma activity in nephropathic cystinosis.
    Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1

    Topics: Child, Preschool; Cysteamine; Cystinosis; Fanconi Syndrome; Hexosaminidases; Humans; Nephrotic Syndrome

2009
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
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience.
    Pediatric nephrology (Berlin, Germany), 2010, Volume: 25, Issue:12

    Topics: Adolescent; Angiotensin-Converting Enzyme Inhibitors; Child; Child, Preschool; Cysteamine; Cystinosis; Disease Progression; Drug Therapy, Combination; Early Diagnosis; Fanconi Syndrome; Female; Humans; Infant; Italy; Kaplan-Meier Estimate; Kidney; Kidney Failure, Chronic; Logistic Models; Male; Nephrotic Syndrome; Retrospective Studies; Risk Assessment; Risk Factors; Time Factors; Treatment Outcome

2010
Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.
    Kidney international, 2012, Volume: 81, Issue:2

    Topics: Adolescent; Adult; Age Factors; Amino Acid Transport Systems, Neutral; Child; Child, Preschool; Cysteamine; Cystinosis; Diabetes Complications; Disease Progression; Educational Status; Employment; Fanconi Syndrome; Female; Follow-Up Studies; Humans; Hypothyroidism; Infant; Kaplan-Meier Estimate; Kidney Failure, Chronic; Male; Middle Aged; Nephrotic Syndrome; Nervous System Diseases; Neuromuscular Diseases; Radiation-Protective Agents; Young Adult

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
Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up.
    Pediatric nephrology (Berlin, Germany), 2013, Volume: 28, Issue:3

    Topics: Adolescent; Biomarkers; Chemistry, Pharmaceutical; Creatinine; Cysteamine; Cystinosis; Delayed-Action Preparations; Drug Administration Schedule; Fanconi Syndrome; Female; Glomerular Filtration Rate; Humans; Kidney; Leukocyte Count; Male; Nephrotic Syndrome; Time Factors; Treatment Outcome; Young Adult

2013
Follow-up and treatment of adults with cystinosis in the Netherlands.
    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2002, Volume: 17, Issue:10

    Topics: Adult; Central Nervous System Diseases; Cysteamine; Cystinosis; Endocrine System Diseases; Fanconi Syndrome; Female; Follow-Up Studies; Humans; Kidney Transplantation; Male; Muscular Diseases; Netherlands; Postoperative Complications; Retrospective Studies; Socioeconomic Factors; Vision Disorders; Visual Acuity

2002
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
Development of Fanconi syndrome during infancy in a patient with cystinosis.
    Acta paediatrica (Oslo, Norway : 1992), 2006, Volume: 95, Issue:3

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant; Male; Renal Agents

2006
A deeper look into cysteamine absorption for the treatment of cystinosis.
    The Journal of pediatrics, 2006, Volume: 148, Issue:6

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Gastrins; Humans; Intestine, Small

2006
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.
    Annals of internal medicine, 2007, Aug-21, Volume: 147, Issue:4

    Topics: Administration, Oral; Adolescent; Adult; Amino Acid Transport Systems, Neutral; Cysteamine; Cystinosis; Fanconi Syndrome; Female; Gene Deletion; Humans; Kidney Transplantation; Kidney Tubules; Male; Middle Aged; Retrospective Studies

2007
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
Pyroglutamic aciduria and nephropathic cystinosis.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3

    Topics: 3-Hydroxybutyric Acid; Case-Control Studies; Child, Preschool; Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant; Ketoglutaric Acids; Lactates; Malates; Pyrrolidonecarboxylic Acid; Succinates

1999
Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome.
    Clinical nephrology, 2002, Volume: 57, Issue:5

    Topics: Adolescent; Child; Cysteamine; Cystinosis; Fanconi Syndrome; Humans

2002
Treatment of cystinosis with cysteamine.
    The Journal of pediatrics, 1979, Volume: 94, Issue:5

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant; Male

1979
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
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
    The Journal of clinical investigation, 1988, Volume: 81, Issue:2

    Topics: Administration, Oral; Biological Transport; Carnitine; Cells, Cultured; Child; Child, Preschool; Cholesterol; Cysteamine; Cystinosis; Fanconi Syndrome; Fatty Acids, Nonesterified; Humans; Infant; Kidney Transplantation; Lipid Metabolism; Metabolic Clearance Rate; Muscles; Oculocerebrorenal Syndrome; Renal Tubular Transport, Inborn Errors; Triglycerides

1988
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
Therapy of cystinosis.
    The New England journal of medicine, 1985, Dec-05, Volume: 313, Issue:23

    Topics: Cysteamine; Cystinosis; Fanconi Syndrome; Humans; Infant

1985