199 related articles for article (PubMed ID: 29238895)
1. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Pop A; Williams M; Struys EA; Monné M; Jansen EEW; De Grassi A; Kanhai WA; Scarcia P; Ojeda MRF; Porcelli V; van Dooren SJM; Lennertz P; Nota B; Abdenur JE; Coman D; Das AM; El-Gharbawy A; Nuoffer JM; Polic B; Santer R; Weinhold N; Zuccarelli B; Palmieri F; Palmieri L; Salomons GS
J Inherit Metab Dis; 2018 Mar; 41(2):169-180. PubMed ID: 29238895
[TBL] [Abstract][Full Text] [Related]
2. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Nota B; Struys EA; Pop A; Jansen EE; Fernandez Ojeda MR; Kanhai WA; Kranendijk M; van Dooren SJ; Bevova MR; Sistermans EA; Nieuwint AW; Barth M; Ben-Omran T; Hoffmann GF; de Lonlay P; McDonald MT; Meberg A; Muntau AC; Nuoffer JM; Parini R; Read MH; Renneberg A; Santer R; Strahleck T; van Schaftingen E; van der Knaap MS; Jakobs C; Salomons GS
Am J Hum Genet; 2013 Apr; 92(4):627-31. PubMed ID: 23561848
[TBL] [Abstract][Full Text] [Related]
3. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
Majd H; King MS; Smith AC; Kunji ERS
Biochim Biophys Acta Bioenerg; 2018 Jan; 1859(1):1-7. PubMed ID: 29031613
[TBL] [Abstract][Full Text] [Related]
4. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C; Salomons GS; Lukacs Z; Struys EA; van der Knaap MS; Ullrich K; Santer R
J Inherit Metab Dis; 2014 Sep; 37(5):775-81. PubMed ID: 24687295
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I; Staretz-Chacham O; Wormser O; Perez Y; Saada A; Kadir R; Birk OS
Am J Med Genet A; 2018 Feb; 176(2):330-336. PubMed ID: 29226520
[TBL] [Abstract][Full Text] [Related]
6. A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Li W; Zhang M; Zhang L; Shi Y; Zhao L; Wu B; Li X; Zhou S
BMC Neurol; 2020 Jul; 20(1):278. PubMed ID: 32660532
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
Struys EA; Verhoeven NM; Roos B; Jakobs C
Clin Chem; 2003 Jul; 49(7):1133-8. PubMed ID: 12816910
[TBL] [Abstract][Full Text] [Related]
9. 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
Biochim Biophys Acta Proteins Proteom; 2019 Nov; 1867(11):140255. PubMed ID: 31349060
[TBL] [Abstract][Full Text] [Related]
10. 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
Am J Med Genet A; 2018 Feb; 176(2):351-358. PubMed ID: 29265763
[TBL] [Abstract][Full Text] [Related]
11. A
Li H; Hurlburt AJ; Tennessen JM
Dis Model Mech; 2018 Sep; 11(9):. PubMed ID: 30108060
[TBL] [Abstract][Full Text] [Related]
12. Progress in understanding 2-hydroxyglutaric acidurias.
Kranendijk M; Struys EA; Salomons GS; Van der Knaap MS; Jakobs C
J Inherit Metab Dis; 2012 Jul; 35(4):571-87. PubMed ID: 22391998
[TBL] [Abstract][Full Text] [Related]
13. D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A; Struys EA; Jansen EEW; Fernandez MR; Kanhai WA; van Dooren SJM; Ozturk S; van Oostendorp J; Lennertz P; Kranendijk M; van der Knaap MS; Gibson KM; van Schaftingen E; Salomons GS
Hum Mutat; 2019 Jul; 40(7):975-982. PubMed ID: 30908763
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA
J Inherit Metab Dis; 2006 Feb; 29(1):21-9. PubMed ID: 16601864
[TBL] [Abstract][Full Text] [Related]
16. Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.
Rodrigues DGB; de Moura Coelho D; Sitta Â; Jacques CED; Hauschild T; Manfredini V; Bakkali A; Struys EA; Jakobs C; Wajner M; Vargas CR
Toxicol In Vitro; 2017 Aug; 42():47-53. PubMed ID: 28396261
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Kranendijk M; Struys EA; van Schaftingen E; Gibson KM; Kanhai WA; van der Knaap MS; Amiel J; Buist NR; Das AM; de Klerk JB; Feigenbaum AS; Grange DK; Hofstede FC; Holme E; Kirk EP; Korman SH; Morava E; Morris A; Smeitink J; Sukhai RN; Vallance H; Jakobs C; Salomons GS
Science; 2010 Oct; 330(6002):336. PubMed ID: 20847235
[TBL] [Abstract][Full Text] [Related]
19. Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.
Mazzei R; Ungaro C; Garreffa G; Conforti FL; Mollo A; Sprovieri T; Servillo P; Blasi V; Gallo O; Cerasa A; Lanza PL; Quattrone A
Neurol Sci; 2011 Feb; 32(1):95-9. PubMed ID: 20859647
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
Struys EA; Salomons GS; Achouri Y; Van Schaftingen E; Grosso S; Craigen WJ; Verhoeven NM; Jakobs C
Am J Hum Genet; 2005 Feb; 76(2):358-60. PubMed ID: 15609246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]