Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1993
2025

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

Year Number of Results
1993 1
1994 1
1998 1
2004 1
2005 1
2008 3
2009 3
2010 1
2011 1
2012 2
2013 1
2017 2
2018 3
2019 1
2020 2
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
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 leukoencephalopa …
The neurometabolic disorder L: -2-hydroxyglutaric aciduria is caused by mutations in a gene present on chromosom …
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.
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. ...
The organic acidurias D: -2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and comb …
L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?
Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. ...This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumo
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on
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.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutrope …
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
Zhang Y, Wang C, Yang K, Wang S, Tian G, Chen Y. Zhang Y, et al. Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6. Neurol Sci. 2018. PMID: 29980873 Review.
OBJECTIVE: L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic resonance imaging (MRI) in the subcortical white matter, which are affec …
OBJECTIVE: L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated …
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
Eguchi M, Ozaki E, Yamauchi T, Ohta M, Higaki T, Masuda K, Imoto I, Ishii E, Eguchi-Ishimae M. Eguchi M, et al. Am J Med Genet A. 2018 Feb;176(2):351-358. doi: 10.1002/ajmg.a.38578. Epub 2017 Dec 19. Am J Med Genet A. 2018. PMID: 29265763 Review.
We report here for the first time a patient who manifested combined D-2- and L-2-hydroxyglutaric aciduria as a result of a hemizygous mutation in SLC25A1 in combination with 22q11.2 deletion. ...
We report here for the first time a patient who manifested combined D-2- and L-2-hydroxyglutaric aciduria as a r …
Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
Aghili M, Zahedi F, Rafiee E. Aghili M, et al. J Neurooncol. 2009 Jan;91(2):233-6. doi: 10.1007/s11060-008-9706-2. Epub 2008 Oct 18. J Neurooncol. 2009. PMID: 18931888 Review.
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. ...This correlation may indicate a possible increased risk of brain tumors among patients with L -2-hydroxyglutaric aciduria..
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. ...This correl
Flux analysis of inborn errors of metabolism.
Reijngoud DJ. Reijngoud DJ. J Inherit Metab Dis. 2018 May;41(3):309-328. doi: 10.1007/s10545-017-0124-5. Epub 2018 Jan 9. J Inherit Metab Dis. 2018. PMID: 29318410 Free PMC article. Review.
The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, urea cycle defects, phenylketonuria, and combined D,L-2-hydroxyglutaric aciduria. Finally, new developments are …
The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, …
[L-2-hydroxyglutaric aciduria].
Terada N. Terada N. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):392-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590079 Review. Japanese. No abstract available.
19 results