Cystinosis (English Wikipedia)

Sendino Garví, E.; Faria, J.; Pou Casellas, C.; Thijssen, S.; Wubbolts, E.J.; Jamalpoor, A.; Harrison, P.; Masereeuw, R.; Janssen, M.J. (2023). "Gene surgery as a potential treatment option for Nephropathic Cystinosis in vitro". doi:10.1101/2023.11.01.565117. Retrieved 2024-05-28.

buffalo.edu (Global: 4,241^st place; English: 2,850^th place)

"Stem cell study reveals how infantile cystinosis causes kidney failure – and how to cure it". Retrieved 2024-05-28.

cystinosis-europe.eu (Global: low place; English: low place)

"Phase I/II CYStem clinical trial - Cystinosis Network Europe". Retrieved 2024-05-28.

doi.org (Global: 2^nd place; English: 2^nd place)

A. Gahl, William; Jess G. Thoene; Jerry A. Schneider (2002). "Cystinosis". N Engl J Med. 347 (2): 111–121. doi:10.1056/NEJMra020552. PMID 12110740.
Levtchenko, Elena; Emma, Francesco (2022), Blau, Nenad; Dionisi Vici, Carlo; Ferreira, Carlos R.; Vianey-Saban, Christine (eds.), "Cystinosis", Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Cham: Springer International Publishing, pp. 1287–1294, doi:10.1007/978-3-030-67727-5_65, ISBN 978-3-030-67726-8, retrieved 2025-12-21{{citation}}: CS1 maint: work parameter with ISBN (link)
Chang, Hayley E.; Hossain, Mahin S.; Song, Chris; Surampudi, Narayana; Nesterova, Galina; Gahl, William A. (2025-05-14). "Long-term outcomes in nephropathic cystinosis: a review". Pediatric Nephrology. doi:10.1007/s00467-025-06790-6. ISSN 0931-041X. PMID 40369127.
Cherqui, Stéphanie; Courtoy, Pierre J. (2017). "The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives". Nature Reviews Nephrology. 13 (2): 115–131. doi:10.1038/nrneph.2016.182. PMC 5116501. PMID 27890970.
Haffner, Dieter; Leifheit-Nestler, Maren; Alioli, Candide; Bacchetta, Justine (2022-01-05). "Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts". Cells. 11 (1): 170. doi:10.3390/cells11010170. ISSN 2073-4409. PMC 8749987. PMID 35011732.
Bäumner, Sören; Weber, Lutz T. (2018-03-14). "Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease". Frontiers in Pediatrics. 6 58. doi:10.3389/fped.2018.00058. ISSN 2296-2360. PMC 5861330. PMID 29594088.
Biswas, Susmito; Gaviria, Martha; Malheiro, Luísa; Marques, João Pedro; Giordano, Vincenzo; Liang, Hong (December 2018). "Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum". Ophthalmology and Therapy. 7 (2): 307–322. doi:10.1007/s40123-018-0146-6. ISSN 2193-8245. PMC 6258572. PMID 30242621.
"Pädiatrische Nephrologie". Monatsschrift Kinderheilkunde (in German). 155 (3): 293–303. March 2007. doi:10.1007/s00112-007-1486-9. ISSN 0026-9298.
Dhiman, Shweta; Mahapatra, Santosh K; Parhi, Anjalika; Shree, Pallavi; Jain, Parul (April 2024). "Ocular cystinosis – Clinical presentation and review of the literature". Indian Journal of Ophthalmology - Case Reports. 4 (2): 444–448. doi:10.4103/IJO.IJO_1944_23. ISSN 2772-3070.
Lucky, Anne W.; Howley, Peter M.; Megyesi, Klara; Spielberg, Stephen P.; Schulman, Joseph D. (August 1977). "Endocrine studies in cystinosis: Compensated primary hypothyroidism". The Journal of Pediatrics. 91 (2): 204–210. doi:10.1016/S0022-3476(77)80813-5. PMID 406375.
Fivush, Barbara (1987-10-01). "Pancreatic Endocrine Insufficiency in Posttransplant Cystinosis". Archives of Pediatrics & Adolescent Medicine. 141 (10): 1087–1089. doi:10.1001/archpedi.1987.04460100065027. ISSN 1072-4710. PMID 3307383.
Sadjadi, Reza; Ghossein, Cybele; Elenberg, Ewa (2025-07-07). "Clinical perspectives on myopathic complications in nephropathic cystinosis". Journal of Rare Diseases. 4 (1) 37. doi:10.1007/s44162-025-00092-z. ISSN 2731-085X.
Trauner, Doris A (2010-04-29), Nass, MD, Ruth; Frank, MD, Yitzchak (eds.), "Neurological and Cognitive Consequences of Nephropathic Cystinosis", Cognitive and Behavioral Abnormalities of Pediatric Diseases, Oxford University PressNew York, pp. 333–341, doi:10.1093/oso/9780195342680.003.0039, ISBN 978-0-19-534268-0, retrieved 2025-12-22{{citation}}: CS1 maint: work parameter with ISBN (link)
Nesterova, Galina; Gahl, William (June 2008). "Nephropathic cystinosis: late complications of a multisystemic disease". Pediatric Nephrology. 23 (6): 863–878. doi:10.1007/s00467-007-0650-8. ISSN 0931-041X. PMID 18008091.
Gahl, William A.; Nesterova, Galina (2016), Avner, Ellis D.; Harmon, William E.; Niaudet, Patrick; Yoshikawa, Norishige (eds.), "Cystinosis and Its Renal Complications in Children", Pediatric Nephrology, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 1329–1353, doi:10.1007/978-3-662-43596-0_37, ISBN 978-3-662-43595-3, retrieved 2025-12-22{{citation}}: CS1 maint: work parameter with ISBN (link)
Treikauskas, U.; Zerell, K.; Harms, E.; Aghayan–Ugurluoglu, R.; Brangenberg, R.; Herzig, N.; Hintner, H.; Knerr, C.; Köppl, C.; Landthaler, I.; Marquardt, T.; Passow, M.; Rausch, A.; Römer, U.; Steidle, G. (2016-11-01). "Nephropathische Cystinose: Spätkomplikationen einer Multisystemerkrankung – Langzeitergebnisse der interdisziplinären Cystinose-Sprechstunde in Traunstein". Nieren- und Hochdruckkrankheiten. 45 (11): 432–438. doi:10.5414/NHX01812. ISSN 0300-5224.
Kasimer, Rachel Nora; Langman, Craig B (February 2021). "Adult complications of nephropathic cystinosis: a systematic review". Pediatric Nephrology. 36 (2): 223–236. doi:10.1007/s00467-020-04487-6. ISSN 0931-041X. PMID 32016627.
Kalatzis, V; Cherqui S; Jean G; Cordier B; Cochat P; Broyer M; Antignac C (October 2001). "Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany". J Am Soc Nephrol. 12 (10): 2170–2174. doi:10.1681/ASN.V12102170. PMID 11562417. Archived from the original on 14 February 2015. Retrieved 31 March 2011.
Howard G. WORTHEN; Robert A. GOOD (1958). "The de Toni-Fanconi Syndrome with Cystinosis". Am J Dis Child. 95 (6): 653–688. doi:10.1001/archpedi.1958.02060050657011. PMID 13532161.
Todisco, Tommaso; Ubertini, Grazia Maria; Bizzarri, Carla; Loche, Sandro; Cappa, Marco (2024-07-01). "Chronic Kidney Disease and Growth Failure in Children". Children. 11 (7): 808. doi:10.3390/children11070808. ISSN 2227-9067. PMC 11274908. PMID 39062256.
Guzzetti, Chiara; Ibba, Anastasia; Incandela, Valeria; Loche, Sandro (2024-12-24). "GH Therapy in Non–Growth Hormone-Deficient Children". Children. 12 (1): 3. doi:10.3390/children12010003. ISSN 2227-9067. PMC 11764098. PMID 39857834.
Harms, Erik (2006), Blau, Nenad; Leonard, James; Hoffmann, Georg F.; Clarke, Joe T. R. (eds.), "Cystinosis", Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases, Berlin/Heidelberg: Springer-Verlag, pp. 221–229, doi:10.1007/3-540-28962-3_23, ISBN 978-3-540-22954-4, retrieved 2025-12-21{{citation}}: CS1 maint: work parameter with ISBN (link)
Killeen, Trevor F.; Elfering, Sarah L.; Riad, Samy M.; Linden, Michael A.; Leng, Ethan Y.; Kandaswamy, Raja; Kizilbash, Sarah J.; Chavers, Blanche M.; Harmon, James V. (September 2022). "Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals". Human Pathology Reports. 29 300661. doi:10.1016/j.hpr.2022.300661.
Liang, Hong; Baudouin, Christophe; Giordano, Vincenzo (April 2025). "Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients". British Journal of Ophthalmology. 109 (4): 442–449. doi:10.1136/bjo-2023-325093. ISSN 0007-1161. PMC 12013570. PMID 39357989.
Levtchenko, Elena; Servais, Aude; Hulton, Sally A; Ariceta, Gema; Emma, Francesco; Game, David S; Lange, Karin; Lapatto, Risto; Liang, Hong; Sberro-Soussan, Rebecca; Topaloglu, Rezan; Das, Anibh M; Webb, Nicholas J A; Wanner, Christoph (2022-08-22). "Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients". Clinical Kidney Journal. 15 (9): 1675–1684. doi:10.1093/ckj/sfac099. ISSN 2048-8505. PMC 9394719. PMID 36003666.
Besouw, Martine; Masereeuw, Rosalinde; Van Den Heuvel, Lambert; Levtchenko, Elena (2013). "Cysteamine: An old drug with new potential". Drug Discovery Today. 18 (15–16): 785–792. doi:10.1016/j.drudis.2013.02.003. PMID 23416144.
Goodyer, P.; Torban, E. (20 May 2025). "Emerging therapeutic strategies for cystinosis - Frontiers". Frontiers in Pediatrics. 13. doi:10.3389/fped.2025.1601409. PMC 12135878. PMID 40469087.
Sendino Garví, E.; Faria, J.; Pou Casellas, C.; Thijssen, S.; Wubbolts, E.J.; Jamalpoor, A.; Harrison, P.; Masereeuw, R.; Janssen, M.J. (2023). "Gene surgery as a potential treatment option for Nephropathic Cystinosis in vitro". doi:10.1101/2023.11.01.565117. Retrieved 2024-05-28.
Jamalpoor, A.; Van Gelder, C. A.; Yousef Yengej, F. A.; Zaal, E. A.; Berlingerio, S. P.; Veys, K. R.; Pou Casellas, C.; Voskuil, K.; Essa, K.; Ammerlaan, C. M.; Rega, L. R.; Van Der Welle, R. E.; Lilien, M. R.; Rookmaaker, M. B.; Clevers, H.; Klumperman, J.; Levtchenko, E.; Berkers, C. R.; Verhaar, M. C.; Altelaar, M.; Masereeuw, R.; Janssen, M. J. (2021). "Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis - PMC - PubMed Central". EMBO Molecular Medicine. 13 (7) e13067. doi:10.15252/emmm.202013067. PMC 8261496. PMID 34165243.
Sur, S.; Kerwin, M.; Pineda, S.; Sansanwal, P.; Sigdel, T. K.; Sirota, M.; Sarwal, M. M. (2025). "Novel mechanism for tubular injury in nephropathic cystinosis - eLife". eLife. 13. doi:10.7554/eLife.94169. PMC 11925453. PMID 40111391.
Thoene, Jess G. (2010-08-23), "Cysteamine treatment of nephropathic cystinosis", Small Molecule Therapy for Genetic Disease, Cambridge University Press, pp. 101–113, doi:10.1017/cbo9780511777905.009, ISBN 978-0-521-51781-2, retrieved 2025-12-21{{citation}}: CS1 maint: work parameter with ISBN (link)
Helmy, Rasha; Atia, Fatma M.; Soliman, Neveen A. (2025-04-07). "Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience". Italian Journal of Pediatrics. 51 (1) 110. doi:10.1186/s13052-025-01943-7. ISSN 1824-7288. PMC 11977944. PMID 40197488.
Carter, Jade (2018-03-02). "Waiting for my second kidney transplant in 7 years". Journal of Kidney Care. 3 (2): 120–121. doi:10.12968/jokc.2018.3.2.120. ISSN 2397-9534.
Kroll, Wolfgang; Lichte, Karl-Henning (November 1973). "Cystinosis: A review of the different forms and of recent advances". Humangenetik. 20 (2): 75–87. doi:10.1007/BF00284842. ISSN 0340-6717. PMID 4594235.
Attard, M.; Jean, G.; Forestier, L.; Cherqui, S.; van't Hoff, W.; Broyer, M.; Antignac, C.; Town, M. (1999-12-01). "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin". Human Molecular Genetics. 8 (13): 2507–2514. doi:10.1093/hmg/8.13.2507. ISSN 0964-6906. PMID 10556299.

dustri.com (Global: low place; English: low place)

Treikauskas, U.; Zerell, K.; Harms, E.; Aghayan–Ugurluoglu, R.; Brangenberg, R.; Herzig, N.; Hintner, H.; Knerr, C.; Köppl, C.; Landthaler, I.; Marquardt, T.; Passow, M.; Rausch, A.; Römer, U.; Steidle, G. (2016-11-01). "Nephropathische Cystinose: Spätkomplikationen einer Multisystemerkrankung – Langzeitergebnisse der interdisziplinären Cystinose-Sprechstunde in Traunstein". Nieren- und Hochdruckkrankheiten. 45 (11): 432–438. doi:10.5414/NHX01812. ISSN 0300-5224.

elsevier.com (Global: 610^th place; English: 704^th place)

linkinghub.elsevier.com

Lucky, Anne W.; Howley, Peter M.; Megyesi, Klara; Spielberg, Stephen P.; Schulman, Joseph D. (August 1977). "Endocrine studies in cystinosis: Compensated primary hypothyroidism". The Journal of Pediatrics. 91 (2): 204–210. doi:10.1016/S0022-3476(77)80813-5. PMID 406375.
Killeen, Trevor F.; Elfering, Sarah L.; Riad, Samy M.; Linden, Michael A.; Leng, Ethan Y.; Kandaswamy, Raja; Kizilbash, Sarah J.; Chavers, Blanche M.; Harmon, James V. (September 2022). "Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals". Human Pathology Reports. 29 300661. doi:10.1016/j.hpr.2022.300661.

jamanetwork.com (Global: 2,650^th place; English: 3,409^th place)

archpedi.jamanetwork.com

Fivush, Barbara (1987-10-01). "Pancreatic Endocrine Insufficiency in Posttransplant Cystinosis". Archives of Pediatrics & Adolescent Medicine. 141 (10): 1087–1089. doi:10.1001/archpedi.1987.04460100065027. ISSN 1072-4710. PMID 3307383.

magonlinelibrary.com (Global: low place; English: low place)

Carter, Jade (2018-03-02). "Waiting for my second kidney transplant in 7 years". Journal of Kidney Care. 3 (2): 120–121. doi:10.12968/jokc.2018.3.2.120. ISSN 2397-9534.

mcw.edu (Global: low place; English: low place)

scge.mcw.edu

"Stem Cell Gene Therapy for Cystinosis - SCGE Platform". Retrieved 2024-05-28.

medlineplus.gov (Global: 1,581^st place; English: 1,299^th place)

MedlinePlus Genetics. Cystinosis. U.S. National Library of Medicine. Available from: https://medlineplus.gov/genetics/condition/cystinosis/

nih.gov (Global: 4^th place; English: 4^th place)

pubmed.ncbi.nlm.nih.gov

A. Gahl, William; Jess G. Thoene; Jerry A. Schneider (2002). "Cystinosis". N Engl J Med. 347 (2): 111–121. doi:10.1056/NEJMra020552. PMID 12110740.
Chang, Hayley E.; Hossain, Mahin S.; Song, Chris; Surampudi, Narayana; Nesterova, Galina; Gahl, William A. (2025-05-14). "Long-term outcomes in nephropathic cystinosis: a review". Pediatric Nephrology. doi:10.1007/s00467-025-06790-6. ISSN 0931-041X. PMID 40369127.
Cherqui, Stéphanie; Courtoy, Pierre J. (2017). "The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives". Nature Reviews Nephrology. 13 (2): 115–131. doi:10.1038/nrneph.2016.182. PMC 5116501. PMID 27890970.
Haffner, Dieter; Leifheit-Nestler, Maren; Alioli, Candide; Bacchetta, Justine (2022-01-05). "Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts". Cells. 11 (1): 170. doi:10.3390/cells11010170. ISSN 2073-4409. PMC 8749987. PMID 35011732.
Bäumner, Sören; Weber, Lutz T. (2018-03-14). "Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease". Frontiers in Pediatrics. 6 58. doi:10.3389/fped.2018.00058. ISSN 2296-2360. PMC 5861330. PMID 29594088.
Biswas, Susmito; Gaviria, Martha; Malheiro, Luísa; Marques, João Pedro; Giordano, Vincenzo; Liang, Hong (December 2018). "Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum". Ophthalmology and Therapy. 7 (2): 307–322. doi:10.1007/s40123-018-0146-6. ISSN 2193-8245. PMC 6258572. PMID 30242621.
Lucky, Anne W.; Howley, Peter M.; Megyesi, Klara; Spielberg, Stephen P.; Schulman, Joseph D. (August 1977). "Endocrine studies in cystinosis: Compensated primary hypothyroidism". The Journal of Pediatrics. 91 (2): 204–210. doi:10.1016/S0022-3476(77)80813-5. PMID 406375.
Fivush, Barbara (1987-10-01). "Pancreatic Endocrine Insufficiency in Posttransplant Cystinosis". Archives of Pediatrics & Adolescent Medicine. 141 (10): 1087–1089. doi:10.1001/archpedi.1987.04460100065027. ISSN 1072-4710. PMID 3307383.
Nesterova, Galina; Gahl, William (June 2008). "Nephropathic cystinosis: late complications of a multisystemic disease". Pediatric Nephrology. 23 (6): 863–878. doi:10.1007/s00467-007-0650-8. ISSN 0931-041X. PMID 18008091.
Kasimer, Rachel Nora; Langman, Craig B (February 2021). "Adult complications of nephropathic cystinosis: a systematic review". Pediatric Nephrology. 36 (2): 223–236. doi:10.1007/s00467-020-04487-6. ISSN 0931-041X. PMID 32016627.
Kalatzis, V; Cherqui S; Jean G; Cordier B; Cochat P; Broyer M; Antignac C (October 2001). "Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany". J Am Soc Nephrol. 12 (10): 2170–2174. doi:10.1681/ASN.V12102170. PMID 11562417. Archived from the original on 14 February 2015. Retrieved 31 March 2011.
Howard G. WORTHEN; Robert A. GOOD (1958). "The de Toni-Fanconi Syndrome with Cystinosis". Am J Dis Child. 95 (6): 653–688. doi:10.1001/archpedi.1958.02060050657011. PMID 13532161.
Todisco, Tommaso; Ubertini, Grazia Maria; Bizzarri, Carla; Loche, Sandro; Cappa, Marco (2024-07-01). "Chronic Kidney Disease and Growth Failure in Children". Children. 11 (7): 808. doi:10.3390/children11070808. ISSN 2227-9067. PMC 11274908. PMID 39062256.
Guzzetti, Chiara; Ibba, Anastasia; Incandela, Valeria; Loche, Sandro (2024-12-24). "GH Therapy in Non–Growth Hormone-Deficient Children". Children. 12 (1): 3. doi:10.3390/children12010003. ISSN 2227-9067. PMC 11764098. PMID 39857834.
Liang, Hong; Baudouin, Christophe; Giordano, Vincenzo (April 2025). "Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients". British Journal of Ophthalmology. 109 (4): 442–449. doi:10.1136/bjo-2023-325093. ISSN 0007-1161. PMC 12013570. PMID 39357989.
Levtchenko, Elena; Servais, Aude; Hulton, Sally A; Ariceta, Gema; Emma, Francesco; Game, David S; Lange, Karin; Lapatto, Risto; Liang, Hong; Sberro-Soussan, Rebecca; Topaloglu, Rezan; Das, Anibh M; Webb, Nicholas J A; Wanner, Christoph (2022-08-22). "Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients". Clinical Kidney Journal. 15 (9): 1675–1684. doi:10.1093/ckj/sfac099. ISSN 2048-8505. PMC 9394719. PMID 36003666.
Besouw, Martine; Masereeuw, Rosalinde; Van Den Heuvel, Lambert; Levtchenko, Elena (2013). "Cysteamine: An old drug with new potential". Drug Discovery Today. 18 (15–16): 785–792. doi:10.1016/j.drudis.2013.02.003. PMID 23416144.
Nesterova, Galina; Gahl, William A. (October 6, 2016). "Cystinosis". GeneReviews. University of Washington, Seattle. PMID 20301574. Archived from the original on April 5, 2011. Retrieved January 11, 2017.
Goodyer, P.; Torban, E. (20 May 2025). "Emerging therapeutic strategies for cystinosis - Frontiers". Frontiers in Pediatrics. 13. doi:10.3389/fped.2025.1601409. PMC 12135878. PMID 40469087.
Jamalpoor, A.; Van Gelder, C. A.; Yousef Yengej, F. A.; Zaal, E. A.; Berlingerio, S. P.; Veys, K. R.; Pou Casellas, C.; Voskuil, K.; Essa, K.; Ammerlaan, C. M.; Rega, L. R.; Van Der Welle, R. E.; Lilien, M. R.; Rookmaaker, M. B.; Clevers, H.; Klumperman, J.; Levtchenko, E.; Berkers, C. R.; Verhaar, M. C.; Altelaar, M.; Masereeuw, R.; Janssen, M. J. (2021). "Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis - PMC - PubMed Central". EMBO Molecular Medicine. 13 (7) e13067. doi:10.15252/emmm.202013067. PMC 8261496. PMID 34165243.
Sur, S.; Kerwin, M.; Pineda, S.; Sansanwal, P.; Sigdel, T. K.; Sirota, M.; Sarwal, M. M. (2025). "Novel mechanism for tubular injury in nephropathic cystinosis - eLife". eLife. 13. doi:10.7554/eLife.94169. PMC 11925453. PMID 40111391.
Broyer, M. (2000). "[Cystinosis from childhood to adulthood]". Nephrologie. 21 (1): 13–18. ISSN 0250-4960. PMID 10730275.
Helmy, Rasha; Atia, Fatma M.; Soliman, Neveen A. (2025-04-07). "Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience". Italian Journal of Pediatrics. 51 (1) 110. doi:10.1186/s13052-025-01943-7. ISSN 1824-7288. PMC 11977944. PMID 40197488.
Kroll, Wolfgang; Lichte, Karl-Henning (November 1973). "Cystinosis: A review of the different forms and of recent advances". Humangenetik. 20 (2): 75–87. doi:10.1007/BF00284842. ISSN 0340-6717. PMID 4594235.
Attard, M.; Jean, G.; Forestier, L.; Cherqui, S.; van't Hoff, W.; Broyer, M.; Antignac, C.; Town, M. (1999-12-01). "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin". Human Molecular Genetics. 8 (13): 2507–2514. doi:10.1093/hmg/8.13.2507. ISSN 0964-6906. PMID 10556299.

ncbi.nlm.nih.gov

NCBI Bookshelf. GeneReviews: Cystinosis. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1409/
Cherqui, Stéphanie; Courtoy, Pierre J. (2017). "The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives". Nature Reviews Nephrology. 13 (2): 115–131. doi:10.1038/nrneph.2016.182. PMC 5116501. PMID 27890970.
Haffner, Dieter; Leifheit-Nestler, Maren; Alioli, Candide; Bacchetta, Justine (2022-01-05). "Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts". Cells. 11 (1): 170. doi:10.3390/cells11010170. ISSN 2073-4409. PMC 8749987. PMID 35011732.
Bäumner, Sören; Weber, Lutz T. (2018-03-14). "Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease". Frontiers in Pediatrics. 6 58. doi:10.3389/fped.2018.00058. ISSN 2296-2360. PMC 5861330. PMID 29594088.
Biswas, Susmito; Gaviria, Martha; Malheiro, Luísa; Marques, João Pedro; Giordano, Vincenzo; Liang, Hong (December 2018). "Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum". Ophthalmology and Therapy. 7 (2): 307–322. doi:10.1007/s40123-018-0146-6. ISSN 2193-8245. PMC 6258572. PMID 30242621.
Todisco, Tommaso; Ubertini, Grazia Maria; Bizzarri, Carla; Loche, Sandro; Cappa, Marco (2024-07-01). "Chronic Kidney Disease and Growth Failure in Children". Children. 11 (7): 808. doi:10.3390/children11070808. ISSN 2227-9067. PMC 11274908. PMID 39062256.
Guzzetti, Chiara; Ibba, Anastasia; Incandela, Valeria; Loche, Sandro (2024-12-24). "GH Therapy in Non–Growth Hormone-Deficient Children". Children. 12 (1): 3. doi:10.3390/children12010003. ISSN 2227-9067. PMC 11764098. PMID 39857834.
Liang, Hong; Baudouin, Christophe; Giordano, Vincenzo (April 2025). "Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients". British Journal of Ophthalmology. 109 (4): 442–449. doi:10.1136/bjo-2023-325093. ISSN 0007-1161. PMC 12013570. PMID 39357989.
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Attard, M.; Jean, G.; Forestier, L.; Cherqui, S.; van't Hoff, W.; Broyer, M.; Antignac, C.; Town, M. (1999-12-01). "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin". Human Molecular Genetics. 8 (13): 2507–2514. doi:10.1093/hmg/8.13.2507. ISSN 0964-6906. PMID 10556299.

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Cystinosis (English Wikipedia)

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