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

Year Number of Results
1948 2
1949 1
1950 1
1951 4
1952 11
1953 6
1954 13
1955 8
1956 12
1957 7
1958 8
1959 4
1960 8
1961 4
1962 10
1963 10
1964 15
1965 7
1966 10
1967 9
1968 19
1969 20
1970 31
1971 21
1972 23
1973 28
1974 22
1975 20
1976 29
1977 30
1978 29
1979 17
1980 19
1981 25
1982 37
1983 23
1984 18
1985 28
1986 24
1987 36
1988 18
1989 27
1990 19
1991 21
1992 18
1993 18
1994 18
1995 23
1996 10
1997 12
1998 18
1999 21
2000 17
2001 19
2002 24
2003 18
2004 27
2005 22
2006 27
2007 23
2008 33
2009 42
2010 44
2011 41
2012 48
2013 44
2014 48
2015 51
2016 47
2017 60
2018 44
2019 63
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2021 61
2022 74
2023 30

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1,708 results

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Page 1
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 …
Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R. Topaloglu R. Pediatr Nephrol. 2021 Jun;36(6):1347-1352. doi: 10.1007/s00467-020-04638-9. Epub 2020 Jun 20. Pediatr Nephrol. 2021. PMID: 32564281 Review.
Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. ...Cysteamine slows organ deterioration, but cannot treat renal Fanconi syndrome or prevent eventual kidney failure; therefore, novel treatment modalities for cystinosis a …
Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. ...Cysteamine slows organ deterioratio …
Cystinosis.
Hohenfellner K, Zerell K, Haffner D. Hohenfellner K, et al. Klin Monbl Augenheilkd. 2023 Mar;240(3):251-259. doi: 10.1055/a-2022-8522. Epub 2023 Mar 28. Klin Monbl Augenheilkd. 2023. PMID: 36977426 English, German.
Cystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 - 1 : 200,000, and is caused by mutations in the CTNS gene encoding the lysosomal membrane protein cystinosin, which transports cystine out of the lysosome into the cy …
Cystinosis is a very rare autosomal recessive lysosomal storage disorder with an incidence of 1 : 150,000 - 1 : 200,000, and is cause …
Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.
Cherqui S. Cherqui S. Cells. 2021 Nov 23;10(12):3273. doi: 10.3390/cells10123273. Cells. 2021. PMID: 34943781 Free PMC article. Review.
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. ...If successful, this treatment could be a one-time therapy that may eliminate or reduce renal deterioration as well as the long-term complications associated …
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. ...If successful, t …
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 …
Cystinosis: a rare multisystem disease.
Servais A. Servais A. Pol Arch Intern Med. 2022 Nov 25;132(11):16363. doi: 10.20452/pamw.16363. Epub 2022 Nov 25. Pol Arch Intern Med. 2022. PMID: 36426771 Free article. No abstract available.
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 identi …
Nephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide …
Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies.
Elmonem MA, Veys KRP, Prencipe G. Elmonem MA, et al. Cells. 2022 Jan 6;11(2):190. doi: 10.3390/cells11020190. Cells. 2022. PMID: 35053306 Free PMC article. Review.
Cysteamine, the only approved specific therapy for cystinosis, ameliorates many but not all pathogenic aspects of the disease. In the current review, we summarize the inflammatory mechanisms involved in cystinosis and their potential impact on the disease pathogenes …
Cysteamine, the only approved specific therapy for cystinosis, ameliorates many but not all pathogenic aspects of the disease. In the …
Cystinosis.
Gahl WA, Thoene JG, Schneider JA. Gahl WA, et al. N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552. N Engl J Med. 2002. PMID: 12110740 Review. No abstract available.
1,708 results

Searches related to "cystinosis"