Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2008 2
2009 1
2010 2
2011 6
2012 9
2013 10
2014 10
2015 5
2016 6
2017 5
2018 9
2019 5
2020 5
2021 5
2022 6
2023 9
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Results by year

Filters applied: . Clear all
Page 1
Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Kranendijk M, et al. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. J Inherit Metab Dis. 2012. PMID: 22391998 Free PMC article. Review.
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS. Pop A, et al. Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13. Hum Mutat. 2019. PMID: 30908763 Free PMC article.
L-2-Hydroxyglutaric aciduria: a case report.
Jović NJ, Kosać A, Koprivsek K. Jović NJ, et al. Srp Arh Celok Lek. 2014 May-Jun;142(5-6):337-41. doi: 10.2298/sarh1406337j. Srp Arh Celok Lek. 2014. PMID: 25033591 Free article.
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.
Rodrigues DGB, de Moura Coelho D, Sitta Â, Jacques CED, Hauschild T, Manfredini V, Bakkali A, Struys EA, Jakobs C, Wajner M, Vargas CR. Rodrigues DGB, et al. Toxicol In Vitro. 2017 Aug;42:47-53. doi: 10.1016/j.tiv.2017.04.006. Epub 2017 Apr 7. Toxicol In Vitro. 2017. PMID: 28396261 Free article.
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS. Pop A, et al. J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13. J Inherit Metab Dis. 2018. PMID: 29238895 Free PMC article.
78 results