129 related articles for article (PubMed ID: 38795053)
1. L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt.
Fayed AI; Mohamed MT; Abed E; Meshref M; Ali Mahmoud A
Neurocase; 2024 Apr; 30(2):77-82. PubMed ID: 38795053
[TBL] [Abstract][Full Text] [Related]
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
Neurol Sci; 2018 Oct; 39(10):1697-1703. PubMed ID: 29980873
[TBL] [Abstract][Full Text] [Related]
3. [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]
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. 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]
6. Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.
George J; Sandhya P; Sajitha KV; Sundaram S
BMJ Case Rep; 2021 Jul; 14(7):. PubMed ID: 34330727
[TBL] [Abstract][Full Text] [Related]
7. Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
AlBalawy S; Ul Islam SS; Tasbahji N
Saudi Med J; 2024 Jul; 45(7):745-748. PubMed ID: 38955445
[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. 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]
10. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
Sanchez-Masian DF; Artuch R; Mascort J; Jakobs C; Salomons G; Zamora A; Casado M; Fernandez M; Recio A; Lujan A
J Am Anim Hosp Assoc; 2012; 48(5):366-71. PubMed ID: 22843824
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.
Leal-Ortega R; Parra-Medina LE; González-Herrera LJ
Tremor Other Hyperkinet Mov (N Y); 2024; 14():12. PubMed ID: 38464914
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.
Christen M; Gonzalo-Nadal V; Kaczmarska A; Dyrka M; Guevar J; Jagannathan V; Leeb T; Gutierrez-Quintana R
J Vet Intern Med; 2023 Mar; 37(2):676-680. PubMed ID: 36880414
[TBL] [Abstract][Full Text] [Related]
17. Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK; Hadj Salem I; Ellouz E; Kamoun Z; kamoun F; tlili A; Kaabachi N; Triki C; Fakhfakh F;
J Hum Genet; 2014 Apr; 59(4):216-22. PubMed ID: 24573090
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. L-2-hydroxyglutaric aciduria in two siblings.
Sztriha L; Gururaj A; Vreken P; Nork M; Lestringant G
Pediatr Neurol; 2002 Aug; 27(2):141-4. PubMed ID: 12213617
[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]
