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
1980 1
1984 1
1993 5
1994 2
1995 4
1996 5
1997 4
1998 4
1999 4
2000 7
2001 2
2002 4
2003 12
2004 11
2005 11
2006 8
2007 7
2008 7
2009 8
2010 8
2011 5
2012 2
2013 2
2014 4
2015 4
2016 3
2017 3
2018 5
2019 2
2022 3
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

138 results

Results by year

Filters applied: . Clear all
Page 1
Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.
Toplak M, Brunner J, Schmidt J, Macheroux P. Toplak M, et al. Biochim Biophys Acta Proteins Proteom. 2019 Nov;1867(11):140255. doi: 10.1016/j.bbapap.2019.07.008. Epub 2019 Jul 23. Biochim Biophys Acta Proteins Proteom. 2019. PMID: 31349060 Free article.
D-2-hydroxyglutaric aciduria is a neurometabolic disorder, characterized by the accumulation of D-2-hydroxyglutarate (D-2HG) in human mitochondria. ...Further analyses revealed that both variants form aggregates that are apparently unable to bind the FAD cofactor. Since, D …
D-2-hydroxyglutaric aciduria is a neurometabolic disorder, characterized by the accumulation of D-2-hydroxyglutarate (D-2HG) in human …
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.
Anghileri E, Bertolino N, Salsano E, Antelmi L, Carpinelli P, Castellotti B, Zucca I, Gellera C, Bisogno R, Caccia C, Cuccarini V. Anghileri E, et al. Brain Res. 2016 Oct 1;1648(Pt A):506-511. doi: 10.1016/j.brainres.2016.08.013. Epub 2016 Aug 16. Brain Res. 2016. PMID: 27543339
L-2-Hydroxyglutaric aciduria (L2HGA) is an extremely rare hereditary neurometabolic disease, characterized by increased L-2-hydroxyglutarate (L2HG) levels in the brain and biological fluids. 24-h urine 2HG level remains the biochemical hallmark for the diagnosis of L2HGA, …
L-2-Hydroxyglutaric aciduria (L2HGA) is an extremely rare hereditary neurometabolic disease, characterized by increased L-2-hydroxygl …
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
Van Schaftingen E, Rzem R, Veiga-da-Cunha M. Van Schaftingen E, et al. J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21. J Inherit Metab Dis. 2009. PMID: 19020988 Review.
The neurometabolic disorder L: -2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosome 14q22.1 and encoding L: -2-hydroxyglutarate dehydrogenase. ...Its accumulation is toxic to the mammalian brain, causing a leukoencephalopathy and increasing th …
The neurometabolic disorder L: -2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosome 14q22.1 and encodin …
D-2-hydroxyglutaric aciduria.
Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJ, Vance C, Duran M, Sweetman L. Nyhan WL, et al. J Child Neurol. 1995 Mar;10(2):137-42. doi: 10.1177/088307389501000216. J Child Neurol. 1995. PMID: 7782605
Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. ...Experience is reported with three patients and an animal model with D-2-hydroxyglutar …
Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chem …
Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria.
Cansever MŞ, Öztekin N, Kıykım E, Zübarioğlu T, Aktuğlu Zeybek AÇ. Cansever MŞ, et al. J Sep Sci. 2023 Aug;46(16):e2300145. doi: 10.1002/jssc.202300145. Epub 2023 Jun 3. J Sep Sci. 2023. PMID: 37269210
2-hydroxyglutaric aciduria is an inherited neurometabolic disorder with two major types: D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria. ...The optimized and validated method was successfully implemented for quantifying D- and L-2-hydroxyglutar …
2-hydroxyglutaric aciduria is an inherited neurometabolic disorder with two major types: D-2-hydroxyglutaric aciduria and L-2- …
L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.
Ma S, Sun R, Jiang B, Gao J, Deng W, Liu P, He R, Cui J, Ji M, Yi W, Yang P, Wu X, Xiong Y, Qiu Z, Ye D, Guan KL. Ma S, et al. Mol Cell Biol. 2017 Mar 31;37(8):e00492-16. doi: 10.1128/MCB.00492-16. Print 2017 Apr 15. Mol Cell Biol. 2017. PMID: 28137912 Free PMC article.
l-2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a mutation in the l-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. ...
l-2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a mutation in the l-2-hydroxyglut …
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.
Zhao G, Winkler ME. Zhao G, et al. J Bacteriol. 1996 Jan;178(1):232-9. doi: 10.1128/jb.178.1.232-239.1996. J Bacteriol. 1996. PMID: 8550422 Free PMC article.
Since the same pathway of Ser biosynthesis seems to be present in all organisms, these results suggest that a mutation in the human SerA homolog may contribute to the neurometabolic diseases D- and L-2-hydroxyglutaric aciduria, which lead to the accumulation of D-HGA and L …
Since the same pathway of Ser biosynthesis seems to be present in all organisms, these results suggest that a mutation in the human SerA hom …
An Enzymatic Biosensor for the Detection of D-2-Hydroxyglutaric Acid in Serum and Urine.
Wu B, Li Z, Kang Z, Ma C, Song H, Lu F, Zhu Z. Wu B, et al. Biosensors (Basel). 2022 Jan 25;12(2):66. doi: 10.3390/bios12020066. Biosensors (Basel). 2022. PMID: 35200327 Free PMC article.
D-2-hydroxyglutaric acid (D2HG) is overproduced as a result of the D-2-hydroxyglutaric aciduria and relevant cancers, caused by gene mutation. Accurate analysis of D2HG could help rapid diagnosis of these diseases and allow for timely treatment. ...
D-2-hydroxyglutaric acid (D2HG) is overproduced as a result of the D-2-hydroxyglutaric aciduria and relevant cancers, caused by gene …
L-2-hydroxyglutaric aciduria and brain tumors.
Coşkun T. Coşkun T. J Pediatr Hematol Oncol. 2010 May;32(4):339-40; author reply 340. doi: 10.1097/MPH.0b013e3181d74596. J Pediatr Hematol Oncol. 2010. PMID: 20421813 No abstract available.
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA. Struys EA. J Inherit Metab Dis. 2006 Feb;29(1):21-9. doi: 10.1007/s10545-006-0317-9. J Inherit Metab Dis. 2006. PMID: 16601864 Review.
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
138 results