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Results by year

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

Year Number of Results
1975 1
1976 1
1977 1
1979 1
1981 1
1982 1
1983 3
1985 4
1986 2
1987 1
1990 1
1992 2
1993 1
1994 1
1995 3
1996 1
1997 3
1999 3
2000 1
2001 9
2002 1
2003 6
2004 2
2005 2
2006 2
2007 2
2008 2
2009 1
2010 1
2011 2
2012 4
2013 2
2014 3
2015 3
2016 5
2017 6
2018 4
2019 3
2020 2
2021 2
2022 1
2024 0

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PubMed for id: 1785188

89 results

Results by year

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Page 1
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE; Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group; Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. Simon MT, et al. Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28. Am J Med Genet A. 2021. PMID: 33112498 Free PMC article.
Fibroblast Growth Factor 23 and Klotho in AKI.
Christov M, Neyra JA, Gupta S, Leaf DE. Christov M, et al. Semin Nephrol. 2019 Jan;39(1):57-75. doi: 10.1016/j.semnephrol.2018.10.005. Semin Nephrol. 2019. PMID: 30606408 Review.
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C, Batzios S, van den Heuvel LP, Rodenburg R, Smeets R, Waterham HR, Turkenburg M, Ruiter JP, Wanders RJA, Doczi J, Horvath G, Dobolyi A, Vargiami E, Wevers RA, Zafeiriou D. Chinopoulos C, et al. Mol Genet Metab. 2019 Jan;126(1):43-52. doi: 10.1016/j.ymgme.2018.11.009. Epub 2018 Nov 16. Mol Genet Metab. 2019. PMID: 30470562
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909962 Free PMC article.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Fitzsimons PE, et al. Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25. Am J Med Genet A. 2018. PMID: 29575569 Free PMC article.
89 results