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

Year Number of Results
1964 1
1965 1
1966 1
1967 1
1968 1
1969 1
1970 3
1971 4
1972 3
1973 7
1974 4
1975 3
1976 7
1977 3
1978 1
1979 1
1980 1
1981 1
1982 2
1983 2
1985 1
1986 1
1987 1
1988 1
1989 6
1990 2
1992 1
1993 3
1994 2
1995 6
1997 1
1998 4
1999 2
2000 5
2001 2
2002 4
2003 5
2004 5
2005 3
2006 2
2007 4
2008 4
2009 8
2010 8
2011 7
2012 3
2013 7
2014 7
2015 5
2016 5
2017 8
2018 4
2019 4
2020 7
2021 11
2022 10
2023 7
2024 2

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197 results

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Page 1
Fanconi Syndrome.
Foreman JW. Foreman JW. Pediatr Clin North Am. 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. Pediatr Clin North Am. 2019. PMID: 30454741 Review.
In children, it typically is caused by inborn errors of metabolism, principally cystinosis. In adults, it is mainly caused by medications, exogenous toxins, and heavy metals. ...
In children, it typically is caused by inborn errors of metabolism, principally cystinosis. In adults, it is mainly caused by medicat …
Cystinosis: a review.
Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Elmonem MA, et al. Orphanet J Rare Dis. 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y. Orphanet J Rare Dis. 2016. PMID: 27102039 Free PMC article. Review.
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. ...In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main t
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. ...In the current review we will discuss the mo
Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC. Albuquerque ALB, et al. World J Pediatr. 2023 Jul;19(7):619-634. doi: 10.1007/s12519-023-00685-y. Epub 2023 Feb 2. World J Pediatr. 2023. PMID: 36729281 Review.
In children, FRST often presents as a secondary feature of systemic disorders that impair energy supply, such as Lowe's syndrome, Dent's disease, cystinosis, hereditary fructose intolerance, galactosemia, tyrosinemia, Alport syndrome, and Wilson's disease. ...
In children, FRST often presents as a secondary feature of systemic disorders that impair energy supply, such as Lowe's syndrome, Dent's dis …
Fertility in Cystinosis.
Reda A, Veys K, Besouw M. Reda A, et al. Cells. 2021 Dec 15;10(12):3539. doi: 10.3390/cells10123539. Cells. 2021. PMID: 34944047 Free PMC article. Review.
The majority of male cystinosis patients are infertile due to azoospermia, in contrast to female patients who are fertile. ...We summarize current insights on both cystinosis males and females, and their clinical implications including the potential effect of cystea …
The majority of male cystinosis patients are infertile due to azoospermia, in contrast to female patients who are fertile. ...We summ …
Cystinosis: a new perspective.
Veys KR, Besouw MT, Pinxten AM, Dyck MV, Casteels I, Levtchenko EN. Veys KR, et al. Acta Clin Belg. 2016 Jun;71(3):131-7. doi: 10.1179/2295333714Y.0000000113. Acta Clin Belg. 2016. PMID: 25560059 Review.
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. ...Longer survival of patients with cystinosis makes transition from pediatric to adult-oriented care another challenge in cystinosis management and requires an extended multidisci
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. ...Longer survival of patients with cystinosis
Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story.
Gaillard S, Roche L, Deschênes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Nony P, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A, Cornu C, Kassai B. Gaillard S, et al. Therapie. 2020 Apr;75(2):169-173. doi: 10.1016/j.therap.2020.02.008. Epub 2020 Feb 13. Therapie. 2020. PMID: 32248985 Review. French.
In this article, we provide an overview of a successful collaboration in nephropathic cystinosis (NC), focusing on what was the key of success, the interactions between academics, the pharmaceutical company and patients organizations. ...
In this article, we provide an overview of a successful collaboration in nephropathic cystinosis (NC), focusing on what was the key o …
Programmed Cell Death in Cystinosis.
Ames EG, Thoene JG. Ames EG, et al. Cells. 2022 Feb 15;11(4):670. doi: 10.3390/cells11040670. Cells. 2022. PMID: 35203319 Free PMC article. Review.
Cystinosis is a lethal autosomal recessive disease that has been known clinically for over 100 years. ...Most of such studies involved apoptosis. Numerous model systems and affected tissues in cystinosis have shown an increased rate of apoptosis that can be partiall
Cystinosis is a lethal autosomal recessive disease that has been known clinically for over 100 years. ...Most of such studies involve
Systemic diseases and the cornea.
Shah R, Amador C, Tormanen K, Ghiam S, Saghizadeh M, Arumugaswami V, Kumar A, Kramerov AA, Ljubimov AV. Shah R, et al. Exp Eye Res. 2021 Mar;204:108455. doi: 10.1016/j.exer.2021.108455. Epub 2021 Jan 21. Exp Eye Res. 2021. PMID: 33485845 Free PMC article. Review.
These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections with viruses (SARS-CoV-2, herpes simplex, varicella zoster, HTLV-1, Epstein-Barr virus) and bacteria (tuberculosis, syphilis and Pseudomonas aeruginosa), autoimmune a …
These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections with viruses (SARS-CoV-2, …
Extrarenal complications of cystinosis.
Topaloglu R. Topaloglu R. Pediatr Nephrol. 2024 Aug;39(8):2283-2292. doi: 10.1007/s00467-023-06225-0. Epub 2023 Dec 21. Pediatr Nephrol. 2024. PMID: 38127152 Review.
Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. ...The present review aimed to evaluate the extra renal complications of cystinosis....
Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. ...The present review aimed to
Nephropathic cystinosis: an update.
Veys KR, Elmonem MA, Arcolino FO, van den Heuvel L, Levtchenko E. Veys KR, et al. Curr Opin Pediatr. 2017 Apr;29(2):168-178. doi: 10.1097/MOP.0000000000000462. Curr Opin Pediatr. 2017. PMID: 28107209 Review.
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. ...RECENT FINDINGS: In this review, we aim to provide an overview of the latest advances in the pathogenetic, clinical, and therapeu …
PURPOSE OF REVIEW: Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic d …
197 results