143 related articles for article (PubMed ID: 19863265)
1. Tracing the origin of L-2-hydroxyglutaric aciduria in a family.
Sass JO; Romrell JS; Vinson SY; Fernandez HH; Fischer J; Rodriguez RL; Okun MS
Int J Neurosci; 2009; 119(11):2118-23. PubMed ID: 19863265
[TBL] [Abstract][Full Text] [Related]
2. Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
Faiyaz-Ul-Haque M; Al-Sayed MD; Faqeih E; Jamil M; Saeed A; Amoudi MS; Kaya N; Abalkhail H; Al-Abdullatif A; Rashed M; Al-Owain M; Peltekova I; Zaidi SH
Ann Saudi Med; 2014; 34(2):107-14. PubMed ID: 24894778
[TBL] [Abstract][Full Text] [Related]
3. D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
Korman SH; Salomons GS; Gutman A; Brooks R; Jakobs C
Neuropediatrics; 2004 Jun; 35(3):151-6. PubMed ID: 15248096
[TBL] [Abstract][Full Text] [Related]
4. 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
BMC Med Genet; 2018 Sep; 19(1):167. PubMed ID: 30217188
[TBL] [Abstract][Full Text] [Related]
5. 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
Neurol Sci; 2018 Oct; 39(10):1697-1703. PubMed ID: 29980873
[TBL] [Abstract][Full Text] [Related]
6. L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.
Marcel C; Mallaret M; Lagha-Boukbiza O; Kremer S; Echaniz-Laguna A; Tranchant C
Rev Neurol (Paris); 2012 Feb; 168(2):187-91. PubMed ID: 22030381
[TBL] [Abstract][Full Text] [Related]
7. L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Sass JO; Jobard F; Topçu M; Mahfoud A; Werlé E; Cure S; Al-Sannaa N; Alshahwan SA; Bataillard M; Cimbalistiene L; Grolik C; Kemmerich V; Omran H; Sztriha L; Tabache M; Fischer J
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S275-9. PubMed ID: 18415700
[TBL] [Abstract][Full Text] [Related]
8. White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.
Yamamoto T; Yoshioka S; Tsurusaki Y; Shino S; Shimojima K; Shigematsu Y; Takeuchi Y; Matsumoto N
Brain Dev; 2016 Jan; 38(1):142-4. PubMed ID: 25982940
[TBL] [Abstract][Full Text] [Related]
9. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study.
Tai H; Zhang Z
BMC Neurol; 2015 Jul; 15():117. PubMed ID: 26208971
[TBL] [Abstract][Full Text] [Related]
10. [L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].
Saifullina EV; Zakharova EY; Kurkina MV; Magzhanov RV; Gaisina EV; Zakirova EN
Zh Nevrol Psikhiatr Im S S Korsakova; 2017; 117(4):81-85. PubMed ID: 28617386
[TBL] [Abstract][Full Text] [Related]
11. [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
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):48-52. PubMed ID: 26829733
[TBL] [Abstract][Full Text] [Related]
12. A successfully treated adult patient with L-2-hydroxyglutaric aciduria.
Samuraki M; Komai K; Hasegawa Y; Kimura M; Yamaguchi S; Terada N; Yamada M
Neurology; 2008 Mar; 70(13):1051-2. PubMed ID: 18362286
[No Abstract] [Full Text] [Related]
13. A novel homozygous missense mutation in L-2-HGA gene: A case report.
Liu Y; Wu Z; Wang W; Han H; Wang Y; Wang T
Clin Neurol Neurosurg; 2023 Feb; 225():107529. PubMed ID: 36610237
[TBL] [Abstract][Full Text] [Related]
14. [L-2-hydroxyglutaric aciduria: report on two cases].
Wagner S; Vianey-Saban C; Salomons GS; Schmitt E; Feillet F
Arch Pediatr; 2014 Jan; 21(1):78-85. PubMed ID: 24321868
[TBL] [Abstract][Full Text] [Related]
15. L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
Haliloglu G; Jobard F; Oguz KK; Anlar B; Akalan N; Coskun T; Sass JO; Fischer J; Topcu M
Neuropediatrics; 2008 Apr; 39(2):119-22. PubMed ID: 18671189
[TBL] [Abstract][Full Text] [Related]
16. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L; Cardoso ML; Gaspar P; Barbot C; Azevedo L; Diogo L; Santos M; Carrilho I; Fineza I; Kok F; Chorão R; Alegria P; Martins E; Teixeira J; Cabral Fernandes H; Verhoeven NM; Salomons GS; Santorelli FM; Cabral P; Amorim A; Jakobs C
Hum Mutat; 2005 Oct; 26(4):395-6. PubMed ID: 16134148
[TBL] [Abstract][Full Text] [Related]
17. L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings.
Sener RN
J Comput Assist Tomogr; 2003; 27(1):38-43. PubMed ID: 12544241
[TBL] [Abstract][Full Text] [Related]
18. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.
Farias FH; Zeng R; Johnson GS; Shelton GD; Paquette D; O'Brien DP
BMC Vet Res; 2012 Jul; 8():124. PubMed ID: 22834903
[TBL] [Abstract][Full Text] [Related]
19. 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
Acta Neurol Belg; 2023 Dec; 123(6):2315-2323. PubMed ID: 37378753
[TBL] [Abstract][Full Text] [Related]
20. A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
Rzem R; Achouri Y; Marbaix E; Schakman O; Wiame E; Marie S; Gailly P; Vincent MF; Veiga-da-Cunha M; Van Schaftingen E
PLoS One; 2015; 10(3):e0119540. PubMed ID: 25763823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
