PubMed for id: 87458

Year	Number of Results
1979	1
1983	1
1985	1
1986	2
1987	2
1989	1
1990	1
1992	3
1993	3
1994	1
1997	1
1998	1
2000	1
2001	1
2002	2
2003	2
2004	1
2005	2
2006	7
2007	3
2008	3
2009	3
2010	3
2011	10
2012	6
2013	10
2014	4
2015	1
2016	7
2017	9
2018	9
2019	8
2020	9
2021	13
2022	8
2023	5

1

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. Peetsold M, et al. J Child Neurol. 2021 Mar;36(4):310-323. doi: 10.1177/0883073820962931. Epub 2020 Oct 14. J Child Neurol. 2021. PMID: 33052056 Review.

2

Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

Ryder B, Moore F, Mitchell A, Thompson S, Christodoulou J, Balasubramaniam S. Ryder B, et al. JIMD Rep. 2018;40:77-83. doi: 10.1007/8904_2017_65. Epub 2017 Oct 21. JIMD Rep. 2018. PMID: 29052812 Free PMC article.

3

Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.

Ruecker N, Jansen R, Trujillo C, Puckett S, Jayachandran P, Piroli GG, Frizzell N, Molina H, Rhee KY, Ehrt S. Ruecker N, et al. Cell Chem Biol. 2017 Mar 16;24(3):306-315. doi: 10.1016/j.chembiol.2017.01.005. Epub 2017 Feb 16. Cell Chem Biol. 2017. PMID: 28219662 Free PMC article.

4

Fumarase deficiency in dichorionic diamniotic twins.

Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ. Tregoning S, et al. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4. Twin Res Hum Genet. 2013. PMID: 24182348

5

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. Ezgu F, et al. Gene. 2013 Jul 25;524(2):403-6. doi: 10.1016/j.gene.2013.03.026. Epub 2013 Apr 20. Gene. 2013. PMID: 23612258

6

Infantile metabolic encephalopathy due to fumarase deficiency.

Saini AG, Singhi P. Saini AG, et al. J Child Neurol. 2013 Apr;28(4):535-7. doi: 10.1177/0883073812447286. Epub 2012 Jul 6. J Child Neurol. 2013. PMID: 22772160

7

Mild fumarase deficiency and a trial of low protein diet.

Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V. Kimonis VE, et al. Mol Genet Metab. 2012 Sep;107(1-2):241-2. doi: 10.1016/j.ymgme.2012.04.010. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22595425

8

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. Mroch AR, et al. Am J Med Genet A. 2012 Jan;158A(1):155-8. doi: 10.1002/ajmg.a.34344. Epub 2011 Nov 8. Am J Med Genet A. 2012. PMID: 22069215

9

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. Ottolenghi C, et al. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188

10

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bayley JP, Launonen V, Tomlinson IP. Bayley JP, et al. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350-9-20. BMC Med Genet. 2008. PMID: 18366737 Free PMC article.

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