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

Year Number of Results
1890 1
1906 1
1907 1
1909 1
1929 2
1930 1
1932 1
1933 1
1934 3
1935 2
1945 3
1946 1
1947 2
1948 1
1949 1
1950 1
1951 7
1952 5
1953 7
1954 4
1955 6
1956 8
1957 10
1958 7
1959 8
1960 6
1961 14
1962 9
1963 21
1964 30
1965 40
1966 35
1967 43
1968 47
1969 23
1970 49
1971 31
1972 36
1973 34
1974 38
1975 39
1976 32
1977 22
1978 23
1979 32
1980 38
1981 34
1982 25
1983 29
1984 26
1985 18
1986 28
1987 20
1988 27
1989 21
1990 23
1991 24
1992 13
1993 18
1994 25
1995 29
1996 25
1997 17
1998 31
1999 28
2000 34
2001 32
2002 26
2003 36
2004 29
2005 58
2006 32
2007 40
2008 26
2009 21
2010 34
2011 29
2012 22
2013 36
2014 32
2015 41
2016 33
2017 42
2018 38
2019 40
2020 43
2021 39
2022 40
2023 48
2024 28

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1,963 results

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Page 1
Cystinuria: clinical practice recommendation.
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN. Servais A, et al. Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9. Kidney Int. 2021. PMID: 32918941
Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. ...This clinical practice recommendation provides guidance …
Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation …
[Cystinuria].
Prot-Bertoye C, Daudon M, Tostivint I, Dousseaux MP, Defazio J, Traxer O, Knebelmann B, Courbebaisse M. Prot-Bertoye C, et al. Nephrol Ther. 2021 Apr;17S:S100-S107. doi: 10.1016/j.nephro.2020.03.001. Nephrol Ther. 2021. PMID: 33910689 Review. French.
Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. ...
Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7 …
Cystinuria.
Nozarian Z, Safavi M. Nozarian Z, et al. Postgrad Med J. 2022 Jan;98(1155):67. doi: 10.1136/postgradmedj-2020-138483. Epub 2020 Nov 12. Postgrad Med J. 2022. PMID: 33184137 No abstract available.
Cystinuria: an update on pathophysiology, genetics, and clinical management.
D'Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM. D'Ambrosio V, et al. Pediatr Nephrol. 2022 Aug;37(8):1705-1711. doi: 10.1007/s00467-021-05342-y. Epub 2021 Nov 23. Pediatr Nephrol. 2022. PMID: 34812923 Review.
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three other amino acids (ornithine, lysine, and arginine) in the renal proximal tubule. ...T …
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic …
Cystinuria.
Mattoo A, Goldfarb DS. Mattoo A, et al. Semin Nephrol. 2008 Mar;28(2):181-91. doi: 10.1016/j.semnephrol.2008.01.011. Semin Nephrol. 2008. PMID: 18359399 Review.
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. ...Thus far, mutations in 2 genes, SLC3A1 and SLC7A9, have been identified as being responsible for most cas …
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and t …
Cystinuria.
Dello Strologo L, Rizzoni G. Dello Strologo L, et al. Acta Paediatr Suppl. 2006 Jul;95(452):31-3. doi: 10.1080/08035320600649473. Acta Paediatr Suppl. 2006. PMID: 16801163 Review.
The two types of cystinuria (A and B) have a similar outcome. A mild renal failure is present in 17% of patients. ...CONCLUSION: Following new achievements in the genetics of cystinuria, a new classification has been proposed. Cystinuria is more severe in mal …
The two types of cystinuria (A and B) have a similar outcome. A mild renal failure is present in 17% of patients. ...CONCLUSION: Foll …
Cystinuria-a urologist's perspective.
Thomas K, Wong K, Withington J, Bultitude M, Doherty A. Thomas K, et al. Nat Rev Urol. 2014 May;11(5):270-7. doi: 10.1038/nrurol.2014.51. Epub 2014 Mar 25. Nat Rev Urol. 2014. PMID: 24662732 Review.
Cystinuria is a genetic disease that leads to frequent formation of stones. In patients with recurrent stone formation, particularly patients <30 years old or those who have siblings with stone disease, urologists should maintain a high index of suspicion of the diagnos …
Cystinuria is a genetic disease that leads to frequent formation of stones. In patients with recurrent stone formation, particularly …
Cystinuria: Review of a Life-long and Frustrating Disease.
Kowalczyk NS, Zisman AL. Kowalczyk NS, et al. Yale J Biol Med. 2021 Dec 29;94(4):681-686. eCollection 2021 Dec. Yale J Biol Med. 2021. PMID: 34970106 Free PMC article. Review.
Cystinuria, accounting for about 1-2% of kidney stones in adults, carries significant morbidity beginning at a young age [1]. ...
Cystinuria, accounting for about 1-2% of kidney stones in adults, carries significant morbidity beginning at a young age [1]. ...
Cystinuria: genetic aspects, mouse models, and a new approach to therapy.
Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L. Sahota A, et al. Urolithiasis. 2019 Feb;47(1):57-66. doi: 10.1007/s00240-018-1101-7. Epub 2018 Dec 4. Urolithiasis. 2019. PMID: 30515543 Free PMC article. Review.
Thus, there is a need to reduce or eliminate the risks associated with therapy for cystinuria. Four mouse models for cystinuria have been described and these models provide a resource for evaluating the safety and efficacy of new therapies for cystinuria. ... …
Thus, there is a need to reduce or eliminate the risks associated with therapy for cystinuria. Four mouse models for cystinuria …
Cystinuria in Childhood.
Akcaboy M, Bakkaloglu SA. Akcaboy M, et al. Klin Padiatr. 2021 Jul;233(4):200-202. doi: 10.1055/a-1497-2269. Epub 2021 Jul 20. Klin Padiatr. 2021. PMID: 34284507 English. No abstract available.
1,963 results