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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1952 1
1955 1
1962 1
1969 1
1970 1
1972 1
1975 1
1976 2
1977 4
1978 3
1979 2
1980 2
1981 4
1982 2
1983 1
1984 3
1985 2
1986 1
1987 8
1988 2
1989 3
1990 6
1991 1
1993 4
1994 2
1995 3
1996 3
1997 1
1998 5
1999 5
2000 5
2001 7
2002 3
2003 4
2004 2
2005 3
2006 1
2007 1
2008 7
2009 9
2010 8
2011 8
2012 5
2013 4
2014 4
2015 8
2016 4
2017 7
2018 7
2019 8
2020 13
2021 14
2022 13
2023 12
2024 1

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215 results

Results by year

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Page 1
Cysteamine revisited: repair of arginine to cysteine mutations.
Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ. Gallego-Villar L, et al. J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. J Inherit Metab Dis. 2017. PMID: 28643139 Free PMC article. Review.
For some decades, synthetic cysteamine has been employed for the treatment of cystinosis, and new uses of the drug continue to emerge. In this review, we discuss the role of cysteamine in cellular and extracellular homeostasis and focus on the potential use of aminothiols …
For some decades, synthetic cysteamine has been employed for the treatment of cystinosis, and new uses of the drug continue to emerge …
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging.
Servais A, Boisgontier J, Saitovitch A, Hummel A, Boddaert N. Servais A, et al. Cells. 2022 Feb 15;11(4):682. doi: 10.3390/cells11040682. Cells. 2022. PMID: 35203331 Free PMC article. Review.
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have a worse compliance to cysteam …
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severit …
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J. Haffner D, et al. Cells. 2022 Jan 5;11(1):170. doi: 10.3390/cells11010170. Cells. 2022. PMID: 35011732 Free PMC article. Review.
Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life in teenagers
Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients
Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M. Müller S, et al. Pediatr Nephrol. 2023 Dec;38(12):3989-3999. doi: 10.1007/s00467-023-06058-x. Epub 2023 Jul 7. Pediatr Nephrol. 2023. PMID: 37415042 Free PMC article.
RESULTS: Patients with INC exhibited altered chest dimensions that were distinct from CKD controls, characterized by markedly increased chest depth to height and chest depth to chest width ratio z-scores (> 1.0), while those of patients with CKD were only mildly affecte …
RESULTS: Patients with INC exhibited altered chest dimensions that were distinct from CKD controls, characterized by markedly increased ches …
Cystinosis: Status of research and treatment in India and the world.
Vashist N, Deshpande AA, Kanakaraj A, Ravichandran R, Bachhawat AK. Vashist N, et al. J Biosci. 2023;48:50. J Biosci. 2023. PMID: 38018544 Free article.
Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome. ...Eight different mutations have been observed in cystinosis patients in India, and the mutation spectrum seems different to what has been seen in the
Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome. ...Eight different mutatio
Flecked retina disorders.
De Laey JJ. De Laey JJ. Bull Soc Belge Ophtalmol. 1993;249:11-22. Bull Soc Belge Ophtalmol. 1993. PMID: 7952338 Review.
However, far more diseases correspond to the rather vague definition, including primary hereditary ocular diseases such as retinitis punctata albescens or Bietti's crystalline dystrophy, neuro-ophthalmologic syndromes such as Kjellin's syndrome, secundary retinal flecks due to me …
However, far more diseases correspond to the rather vague definition, including primary hereditary ocular diseases such as retinitis punctat …
More than tubular dysfunction: cystinosis and kidney outcomes.
Atmis B, K Bayazit A, Cevizli D, Kor D, Fidan HB, Bisgin A, Kilavuz S, Unal I, Erdogan KE, Melek E, Gonlusen G, Anarat A, Onenli Mungan N. Atmis B, et al. J Nephrol. 2022 Apr;35(3):831-840. doi: 10.1007/s40620-021-01078-y. Epub 2021 Jun 7. J Nephrol. 2022. PMID: 34097292
BACKGROUND: Cystinosis is a lysosomal storage disease that affects many tissues. ...Proximal tubular dysfunction is prominent in the infantile form, whereas a combination of glomerular and tubular alterations are observed in the juvenile form. METHODS: Thirty-six ch …
BACKGROUND: Cystinosis is a lysosomal storage disease that affects many tissues. ...Proximal tubular dysfunction is prominent in the …
Clinical and molecular aspects of nephropathic cystinosis.
McDowell GA, Town MM, van't Hoff W, Gahl WA. McDowell GA, et al. J Mol Med (Berl). 1998 Apr;76(5):295-302. doi: 10.1007/s001090050220. J Mol Med (Berl). 1998. PMID: 9587063 Review.
The cystinosis region has been substantially reduced in size by the observation of recombination events in cystinosis patients between markers D17S1828 and D17S2167. ...Four yeast artificial chromosomes have been identified which form a contig covering the or …
The cystinosis region has been substantially reduced in size by the observation of recombination events in cystinosis p …
Skeletal Consequences of Nephropathic Cystinosis.
Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT. Florenzano P, et al. J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20. J Bone Miner Res. 2018. PMID: 29905968 Free article.
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of …
Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome …
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.
Hector E, Cairns D, Michael Wall G. Hector E, et al. Orphanet J Rare Dis. 2022 Jun 16;17(1):231. doi: 10.1186/s13023-022-02367-w. Orphanet J Rare Dis. 2022. PMID: 35710564 Free PMC article.
BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. ...Of the three test articles, NACA exhibited most rapid and greatest potency in cystine reduction. Rank order potency for cystine reduction over t …
BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. ...Of t …
215 results