| 1 | FH, FHD |
| Clinical and biochemical heterogeneity associated with fumarase deficiency. | |
| Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. | |
| Hum Mutat um Mutat. 2011 May 10. doi: 10.1002/humu.21534. [Epub ahead of print] 2011 | |
| 2 | FH, FHD |
| Structural basis of fumarate hydratase deficiency. | |
| Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. | |
| J Inherit Metab Dis 34(3):671-6. Epub 2011 Mar 29. 2011 | |
| 3 | FH, FHD |
| Molecular and biochemical investigations in fumarase deficiency. | |
| Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knoppel C, Knape M, Zierz S, Gellerich FN. | |
| Mol Genet Metab 88(2):146-52. Epub 2006 Feb 28. 2006 | |
| 4 | FH, MCUL1, HLRCC, FHD |
| Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. | |
| Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. | |
| Hum Mol Genet 12(11):1241-52. 2003 | |
| 5 | FH, FHD |
| Molecular analysis and prenatal diagnosis of human fumarase deficiency. | |
| Coughlin EM, et al. | |
| Mol Genet Metab 63 : 254-262. 1998 | |
| 6 | FH, FHD |
| Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. | |
| Bourgeron T, et al. | |
| J Clin Invest 93 : 2514-2518. 1994 | |
| 7 | FH, FHD |
| Identification of a molecular defect in a fumarase deficient patient and mapping of the fumarase gene. | |
| Coughlin EM, et al. | |
| Am J Hum Genet 53 : 896. 1993 | |
| 8 | FH, FHD |
| Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. | |
| Petrova-Benedict R, et al. | |
| Am J Hum Genet 40 : 257-266. 1987 | |