PubMed for id: 79944

Year	Number of Results
1980	1
1993	2
2002	1
2003	1
2004	4
2005	2
2006	1
2007	1
2008	4
2009	1
2010	5
2011	3
2014	4
2015	3
2016	3
2017	3
2018	4
2019	2
2020	3
2021	5
2022	8
2023	6
2024	0

1

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, Pal PK, Muthusamy B. Bellad A, et al. Acta Neurol Belg. 2023 Dec;123(6):2315-2323. doi: 10.1007/s13760-023-02318-7. Epub 2023 Jun 28. Acta Neurol Belg. 2023. PMID: 37378753

2

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.

Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC. Peng W, et al. BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9. BMC Med Genet. 2018. PMID: 30217188 Free PMC article.

3

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.

4

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Ullah MI, et al. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. BMC Med Genet. 2018. PMID: 29458334 Free PMC article.

5

[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].

Deng Y, Tang G, Wen P, Wang G, Zhao C, Chen Z, Zhang X, Liu X, Cui D, Li C. Deng Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):48-52. doi: 10.3760/cma.j.issn.1003-9406.2016.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 26829733 Chinese.

6

Elevated plasma 2-hydroxyglutarate in acute myeloid leukaemia: association with the IDH1 SNP rs11554137 and severe renal impairment.

Wiseman DH, Small HF, Wilks DP, Waddell ID, Dennis MW, Ogilvie DJ, Somervaille TC. Wiseman DH, et al. Br J Haematol. 2014 Jul;166(1):145-8. doi: 10.1111/bjh.12826. Epub 2014 Mar 10. Br J Haematol. 2014. PMID: 24606602 Free article. No abstract available.

7

Exonic mutations in the L2HGDH gene in Staffordshire bull terriers.

Short AD, Mellersh CS, Platt H, Carter SD, Timofte D, Lohi H, Ollier WE. Short AD, et al. Vet Rec. 2010 Sep 18;167(12):455-7. doi: 10.1136/vr.c4476. Vet Rec. 2010. PMID: 20852250 No abstract available.

8

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.

9

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.

Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Vilarinho L, et al. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911013

10

L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.

Larnaout A, Amouri R, Kefi M, Hentati F. Larnaout A, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S375-9. doi: 10.1007/s10545-008-0934-6. Epub 2008 Sep 13. J Inherit Metab Dis. 2008. PMID: 18780161

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

61 results

Results by year