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

Year Number of Results
1963 1
1967 1
1972 1
1975 1
1976 2
1977 1
1980 1
1981 1
1983 2
1984 2
1985 1
1986 3
1987 3
1989 2
1990 3
1991 2
1993 2
1994 1
1995 4
1997 2
1998 2
2000 1
2001 2
2002 1
2003 5
2004 6
2005 4
2006 9
2007 10
2008 12
2009 8
2010 6
2011 9
2012 16
2013 17
2014 10
2015 13
2016 18
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2018 19
2019 29
2020 31
2021 23
2022 19
2023 22
2024 13

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313 results

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The following term was not found in PubMed: Droftina
Page 1
Conflict of Interest Disclosures.
[No authors listed] [No authors listed] Global Spine J. 2023 May;13(2_suppl):568S-591S. doi: 10.1177/21925682231173597. Global Spine J. 2023. PMID: 37222100 Free PMC article. No abstract available.
Congenital erythropoietic porphyria.
To-Figueras J, Erwin AL, Aguilera P, Millet O, Desnick RJ. To-Figueras J, et al. Liver Int. 2024 May 8. doi: 10.1111/liv.15958. Online ahead of print. Liver Int. 2024. PMID: 38717058 Review.
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in …
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyr …
Congenital Erythropoietic Porphyria.
Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Erwin A, et al. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24027798 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of CEP in a proband with suggestive clinical and biochemical findings is most commonly established by identification of biallelic pathogenic variants in UROS, and - on rare occasion - by identification of a hemizygous pathogenic variant in …
DIAGNOSIS/TESTING: The diagnosis of CEP in a proband with suggestive clinical and biochemical findings is most commonly established by ident …
Congenital erythropoietic porphyria: Recent advances.
Erwin AL, Desnick RJ. Erwin AL, et al. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27. Mol Genet Metab. 2019. PMID: 30685241 Free PMC article. Review.
CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a specific X-linked GATA1 mutation. ...The clinical spectrum of CEP depends on the level of residual UROS activity, which is determined by …
CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a spec …
Advanced therapies of skin injuries.
Maver T, Maver U, Kleinschek KS, Raščan IM, Smrke DM. Maver T, et al. Wien Klin Wochenschr. 2015 Dec;127 Suppl 5:S187-98. doi: 10.1007/s00508-015-0859-7. Epub 2015 Sep 24. Wien Klin Wochenschr. 2015. PMID: 26404739 Review.
Urolithins: A Prospective Alternative against Brain Aging.
An L, Lu Q, Wang K, Wang Y. An L, et al. Nutrients. 2023 Sep 6;15(18):3884. doi: 10.3390/nu15183884. Nutrients. 2023. PMID: 37764668 Free PMC article. Review.
However, the usability of Uros in diagnosis, prevention, and treatment of neurodegenerative diseases remains elusive. In this review, we aim to present the comprehensive achievements of Uros in age-related brain dysfunctions and neurodegenerative diseases and discus …
However, the usability of Uros in diagnosis, prevention, and treatment of neurodegenerative diseases remains elusive. In this review, …
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E, Brancaleoni V, Granata F. Di Pierro E, et al. Br J Haematol. 2016 May;173(3):365-79. doi: 10.1111/bjh.13978. Epub 2016 Mar 11. Br J Haematol. 2016. PMID: 26969896 Free article. Review.
CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out....
CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other ca …
Conflict of Interest Disclosures.
[No authors listed] [No authors listed] Global Spine J. 2024 May;14(4_suppl):690S-714S. doi: 10.1177/21925682241245615. Global Spine J. 2024. PMID: 38726630 Free PMC article. No abstract available.
Oxidative Stress, Antioxidant Capabilities, and Bioavailability: Ellagic Acid or Urolithins?
Alfei S, Marengo B, Zuccari G. Alfei S, et al. Antioxidants (Basel). 2020 Aug 4;9(8):707. doi: 10.3390/antiox9080707. Antioxidants (Basel). 2020. PMID: 32759749 Free PMC article. Review.
This review focuses on the pathophysiology of OS; on EA and UROs chemical features and on the mechanisms of their antioxidant activity. A discussion on the clinical applicability of the debated UROs in place of EA and on the effectiveness of EA-enriched products is …
This review focuses on the pathophysiology of OS; on EA and UROs chemical features and on the mechanisms of their antioxidant activit …
313 results