These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
136 related articles for article (PubMed ID: 15221078)
1. A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency. Remes AM; Filppula SA; Rantala H; Leisti J; Ruokonen A; Sharma S; Juffer AH; Hiltunen JK J Mol Med (Berl); 2004 Aug; 82(8):550-4. PubMed ID: 15221078 [TBL] [Abstract][Full Text] [Related]
2. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. Bourgeron T; Chretien D; Poggi-Bach J; Doonan S; Rabier D; Letouzé P; Munnich A; Rötig A; Landrieu P; Rustin P J Clin Invest; 1994 Jun; 93(6):2514-8. PubMed ID: 8200987 [TBL] [Abstract][Full Text] [Related]
3. Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene. Ezgu F; Krejci P; Wilcox WR Gene; 2013 Jul; 524(2):403-6. PubMed ID: 23612258 [TBL] [Abstract][Full Text] [Related]
4. Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature. Peetsold M; Goorden S; Breuning M; Williams M; Bakker J; Jacobs E; Hussaarts-Odijk L; Peeters C J Child Neurol; 2021 Mar; 36(4):310-323. PubMed ID: 33052056 [TBL] [Abstract][Full Text] [Related]
5. Molecular and biochemical investigations in fumarase deficiency. Deschauer M; Gizatullina Z; Schulze A; Pritsch M; Knöppel C; Knape M; Zierz S; Gellerich FN Mol Genet Metab; 2006 Jun; 88(2):146-52. PubMed ID: 16510303 [TBL] [Abstract][Full Text] [Related]
6. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Coughlin EM; Christensen E; Kunz PL; Krishnamoorthy KS; Walker V; Dennis NR; Chalmers RA; Elpeleg ON; Whelan D; Pollitt RJ; Ramesh V; Mandell R; Shih VE Mol Genet Metab; 1998 Apr; 63(4):254-62. PubMed ID: 9635293 [TBL] [Abstract][Full Text] [Related]
12. X-ray crystallographic and kinetic correlation of a clinically observed human fumarase mutation. Estévez M; Skarda J; Spencer J; Banaszak L; Weaver TM Protein Sci; 2002 Jun; 11(6):1552-7. PubMed ID: 12021453 [TBL] [Abstract][Full Text] [Related]
13. Molecular docking and molecular dynamics simulations of fumarate hydratase and its mutant H235N complexed with pyromellitic acid and citrate. Subasri S; Chaudhary SK; Sekar K; Kesherwani M; Velmurugan D J Bioinform Comput Biol; 2017 Dec; 15(6):1750026. PubMed ID: 29226743 [TBL] [Abstract][Full Text] [Related]
14. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Mroch AR; Laudenschlager M; Flanagan JD Am J Med Genet A; 2012 Jan; 158A(1):155-8. PubMed ID: 22069215 [TBL] [Abstract][Full Text] [Related]
16. Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient. Yoshinaga Y; Nakai H; Hayashi R; Ito A; Kariya N; Ito M; Shimomura Y J Dermatol; 2016 Jan; 43(1):85-91. PubMed ID: 26173633 [TBL] [Abstract][Full Text] [Related]
17. Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. Grocott O; Phanor SK; Fung F; Thibert RL; Berkmen MB Am J Med Genet A; 2020 Mar; 182(3):504-507. PubMed ID: 31746132 [TBL] [Abstract][Full Text] [Related]
18. Differential metabolic consequences of fumarate hydratase and respiratory chain defects. Raimundo N; Ahtinen J; Fumić K; Barić I; Remes AM; Renkonen R; Lapatto R; Suomalainen A Biochim Biophys Acta; 2008 May; 1782(5):287-94. PubMed ID: 18313410 [TBL] [Abstract][Full Text] [Related]
19. Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. Kubinova K; Tesarova M; Hansikova H; Vesela K; Kuzel D; Mara M J Obstet Gynaecol Res; 2013 Jan; 39(1):410-4. PubMed ID: 22764886 [TBL] [Abstract][Full Text] [Related]
20. Crystallographic studies of the catalytic and a second site in fumarase C from Escherichia coli. Weaver T; Banaszak L Biochemistry; 1996 Nov; 35(44):13955-65. PubMed ID: 8909293 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]