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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 5
2020 7
2021 11
2022 10
2023 6
2024 1

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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 …
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.
Thoene JG. Thoene JG. J Inherit Metab Dis. 1995;18(4):380-6. doi: 10.1007/BF00710050. J Inherit Metab Dis. 1995. PMID: 7494397 Free article. Review.
Nephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. ...A variety of phenotypes are known; however, the molecular defect underlying any of the forms has not yet been …
Nephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the dis …
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 …
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 …
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 …
In Vitro and In Vivo Models to Study Nephropathic Cystinosis.
Cheung PY, Harrison PT, Davidson AJ, Hollywood JA. Cheung PY, et al. Cells. 2021 Dec 21;11(1):6. doi: 10.3390/cells11010006. Cells. 2021. PMID: 35011573 Free PMC article. Review.
The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the primary cau …
The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysi …
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 th …
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives.
Emma F, Montini G, Pennesi M, Peruzzi L, Verrina E, Goffredo BM, Canalini F, Cassiman D, Rossi S, Levtchenko E. Emma F, et al. Cells. 2022 Jun 4;11(11):1839. doi: 10.3390/cells11111839. Cells. 2022. PMID: 35681534 Free PMC article. Review.
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular c …
Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic …
197 results