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Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature.
El Ghoul K, Akiki D, Nawfal N, Jaoude MA. El Ghoul K, et al. Transpl Immunol. 2024 Apr;83:101993. doi: 10.1016/j.trim.2024.101993. Epub 2024 Jan 14. Transpl Immunol. 2024. PMID: 38224843 Review.
This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT. The first patient, diagnosed with infantile nephropathic cystinosis treated by cystine-depleting therapy, was operated by KT at the age …
This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT. The first …
Lysosome dysfunction in the pathogenesis of kidney diseases.
Surendran K, Vitiello SP, Pearce DA. Surendran K, et al. Pediatr Nephrol. 2014 Dec;29(12):2253-61. doi: 10.1007/s00467-013-2652-z. Epub 2013 Nov 12. Pediatr Nephrol. 2014. PMID: 24217784 Free PMC article. Review.
Two inherited diseases that manifest as kidney dysfunction are Fabry's disease and cystinosis, each of which is caused by a primary biochemical defect at the lysosome resulting from loss-of-function mutations in genes that encode lysosomal proteins. The functions of the ly …
Two inherited diseases that manifest as kidney dysfunction are Fabry's disease and cystinosis, each of which is caused by a primary b …
New aspects of the pathogenesis of cystinosis.
Kalatzis V, Antignac C. Kalatzis V, et al. Pediatr Nephrol. 2003 Mar;18(3):207-15. doi: 10.1007/s00467-003-1077-5. Epub 2003 Feb 27. Pediatr Nephrol. 2003. PMID: 12644911 Review.
Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cystine, the disulfide of the amino acid cysteine. ...The Ctns(-/-) mouse model may provide clues to the cause of the Fanconi syndrome associated with cystinosis, the or
Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cystine, the disulfide of the amino
Living donor kidney transplantation in patients with hereditary nephropathies.
Niaudet P. Niaudet P. Nat Rev Nephrol. 2010 Dec;6(12):736-43. doi: 10.1038/nrneph.2010.122. Epub 2010 Sep 28. Nat Rev Nephrol. 2010. PMID: 20877305 Review.
Renal transplantation from a living related donor is not contraindicated in most nephropathies that have an autosomal recessive mode of inheritance (for example, autosomal recessive polycystic kidney disease and cystinosis). Renal transplant recipients with ADPKD, however, …
Renal transplantation from a living related donor is not contraindicated in most nephropathies that have an autosomal recessive mode of inhe …
[Cystinosis in adults: A systemic disease].
Servais A, Goizet C, Bertholet-Thomas A, Decramer S, Llanas B, Choukroun G, Novo R. Servais A, et al. Nephrol Ther. 2015 Jun;11(3):152-9. doi: 10.1016/j.nephro.2014.12.001. Epub 2015 Mar 11. Nephrol Ther. 2015. PMID: 25769364 Review. French.
Cystinosis is a multisystemic autosomal recessive disorder characterized by an intra-lysosomal accumulation of cystine. ...A multidisciplinary team should take care of these patients, even if the nephrologist remains in first line. Apart from infantile form, there is a
Cystinosis is a multisystemic autosomal recessive disorder characterized by an intra-lysosomal accumulation of cystine. ...A multidis
[Cystinosis from childhood to adulthood].
Broyer M. Broyer M. Nephrologie. 2000;21(1):13-8. Nephrologie. 2000. PMID: 10730275 Review. French.
Nephropathic cystinosis is a metabolic disease related to lysosomal cystine accumulation in almost all tissues of the body. ...This gene encodes a protein of the lysosomal membrane involved in the transport of cystine out of the lysosome. There is a juvenile,
Nephropathic cystinosis is a metabolic disease related to lysosomal cystine accumulation in almost all tissues of the body. ..
An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.
Joosten H, Strunk AL, Meijer S, Boers JE, Ariës MJ, Abbes AP, Engel H, Beukhof JR. Joosten H, et al. Clin Nephrol. 2010 Jun;73(6):454-72. doi: 10.5414/cnp73454. Clin Nephrol. 2010. PMID: 20497759 Review.
The following disorders are discussed by mode of inheritance: 1) Autosomal dominant: autosomal dominant polycystic kidney disease, nephropathies associated with uromodulin (medullary cystic disease and familial juvenile hyperuricemic nephropathy), renal cysts and diabetes …
The following disorders are discussed by mode of inheritance: 1) Autosomal dominant: autosomal dominant polycystic kidney disease, nephropat …
[Ocular manifestations of rheumatic diseases. Cooperation between internist/ophthalmologist].
Tyndall A, Steiger U. Tyndall A, et al. Klin Monbl Augenheilkd. 1993 May;202(5):352-5. doi: 10.1055/s-2008-1045602. Klin Monbl Augenheilkd. 1993. PMID: 8377390 Review. German.
Systemic syndromes most likely to be associated with uveitis are Reiter's disease, ankylosing spondylitis, sarcoidosis, juvenile arthritis, interstitial nephritis, inflammatory bowel disease, syphilis. The patterns are different, eg: acute painful unilateral anterior uveit …
Systemic syndromes most likely to be associated with uveitis are Reiter's disease, ankylosing spondylitis, sarcoidosis, juvenile arth …