Fumarase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Fumarase deficiency" in English language version.

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12nih.gov

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5doi.org

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3web.archive.org

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3semanticscholar.org

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1omim.org

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1phoenixnewtimes.com

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1digitaljournal.com

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1deseretnews.com

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1reuters.com

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1medlineplus.gov

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deseretnews.com

Hollenhorst, John (February 8, 2006). "Birth defect is plaguing children in FLDS towns: Fumarase Deficiency afflicts 20, is linked to marriages of close Kin". Deseret News. Archived from the original on February 16, 2006.

digitaljournal.com

"Mormon Sect's Polygamy Causes Most Of The World's Fumarase Deficiency Cases". Digital Journal. 2007-06-14.

doi.org

Bayley, Jean-Pierre; Launonen, Virpi; Tomlinson, Ian P.M. (25 March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Med. Genet. 9 (1): 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.
Kerrigan, John F.; Aleck, Kirk A.; Tarby, Theodore J.; Bird, C. Roger; Heidenreich, Randall A. (May 2000) [3 May 2001]. "Fumaric aciduria: clinical and imaging features". Ann. Neurol. 47 (5): 583–8. doi:10.1002/1531-8249(200005)47:5<583::AID-ANA5>3.0.CO;2-Y. PMID 10805328. S2CID 10448322.
Gellera, C.; Uziel, G.; Rimoldi, M.; Zeviani, M.; Laverda, A.; Carrara, F.; DiDonato, S. (March 1990). "Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes". Neurology. 40 (3 Part 1): 495–499. doi:10.1212/wnl.40.3_part_1.495. PMID 2314594. S2CID 1292556.
Bourgeron, T.; Chretien, D.; Poggi-Bach, J.; Doonan, S.; Rabier, D.; Letouzé, P.; Munnich, A.; Rötig, A.; Landrieu, P.; Rustin, P. (June 1994). "Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency". J. Clin. Invest. 93 (6): 2514–2518. doi:10.1172/JCI117261. PMC 294471. PMID 8200987.
Zeng, Wen-Qi; Gao, Hanlin; Brueton, Louise; Hutchin, Tim; Gray, George; Chakrapani, Anupam; Olpin, Simon; Shih, Vivian E. (1 May 2006) [30 March 2006]. "Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1". Am. J. Med. Genet. A. 140A (9): 1004–1009. doi:10.1002/ajmg.a.31186. PMID 16575891. S2CID 38553151.

medlineplus.gov

Fumarase deficiency MedlinePlus accessed via Internet June 20, 2022

nih.gov

pubmed.ncbi.nlm.nih.gov

Bayley, Jean-Pierre; Launonen, Virpi; Tomlinson, Ian P.M. (25 March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Med. Genet. 9 (1): 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.
Kerrigan, John F.; Aleck, Kirk A.; Tarby, Theodore J.; Bird, C. Roger; Heidenreich, Randall A. (May 2000) [3 May 2001]. "Fumaric aciduria: clinical and imaging features". Ann. Neurol. 47 (5): 583–8. doi:10.1002/1531-8249(200005)47:5<583::AID-ANA5>3.0.CO;2-Y. PMID 10805328. S2CID 10448322.
Ewbank, Clifton; Kerrigan, John F.; Aleck, Kirk (April 4, 2013) [July 5, 2006]. "Fumarate Hydratase Deficiency". GeneReviews. Seattle WA: University of Washington. PMID 20301679.
Gellera, C.; Uziel, G.; Rimoldi, M.; Zeviani, M.; Laverda, A.; Carrara, F.; DiDonato, S. (March 1990). "Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes". Neurology. 40 (3 Part 1): 495–499. doi:10.1212/wnl.40.3_part_1.495. PMID 2314594. S2CID 1292556.
Petrova-Benedict, R.; Robinson, B.H.; Stacey, T.E.; Mistry, J.; Chalmers, R.A. (1987). "Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing". Am. J. Hum. Genet. 40 (3): 257–266. PMC 1684096. PMID 3578275.
Bourgeron, T.; Chretien, D.; Poggi-Bach, J.; Doonan, S.; Rabier, D.; Letouzé, P.; Munnich, A.; Rötig, A.; Landrieu, P.; Rustin, P. (June 1994). "Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency". J. Clin. Invest. 93 (6): 2514–2518. doi:10.1172/JCI117261. PMC 294471. PMID 8200987.
Zeng, Wen-Qi; Gao, Hanlin; Brueton, Louise; Hutchin, Tim; Gray, George; Chakrapani, Anupam; Olpin, Simon; Shih, Vivian E. (1 May 2006) [30 March 2006]. "Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1". Am. J. Med. Genet. A. 140A (9): 1004–1009. doi:10.1002/ajmg.a.31186. PMID 16575891. S2CID 38553151.

ncbi.nlm.nih.gov

Bayley, Jean-Pierre; Launonen, Virpi; Tomlinson, Ian P.M. (25 March 2008). "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency". BMC Med. Genet. 9 (1): 20. doi:10.1186/1471-2350-9-20. PMC 2322961. PMID 18366737.
Ewbank, Clifton; Kerrigan, John F.; Aleck, Kirk (April 4, 2013) [July 5, 2006]. "Fumarate Hydratase Deficiency". GeneReviews. Seattle WA: University of Washington. PMID 20301679.
Petrova-Benedict, R.; Robinson, B.H.; Stacey, T.E.; Mistry, J.; Chalmers, R.A. (1987). "Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing". Am. J. Hum. Genet. 40 (3): 257–266. PMC 1684096. PMID 3578275.
Bourgeron, T.; Chretien, D.; Poggi-Bach, J.; Doonan, S.; Rabier, D.; Letouzé, P.; Munnich, A.; Rötig, A.; Landrieu, P.; Rustin, P. (June 1994). "Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency". J. Clin. Invest. 93 (6): 2514–2518. doi:10.1172/JCI117261. PMC 294471. PMID 8200987.

rarediseases.info.nih.gov

"Fumarase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 8 April 2019. Retrieved 8 April 2019.

omim.org

Online Mendelian Inheritance in Man (OMIM): Fumarase Deficiency - 606812

phoenixnewtimes.com

Dougherty, John (December 29, 2005). "Forbidden Fruit: Inbreeding among polygamists along the Arizona-Utah border is producing a caste of severely retarded and deformed children". The Phoenix New Times News. p. 2. Archived from the original on 2015-04-20. Retrieved 2008-04-16.

reuters.com

Szep, Jason (June 14, 2007). "Polygamist community faces rare genetic disorder". Reuters.

semanticscholar.org

api.semanticscholar.org

Kerrigan, John F.; Aleck, Kirk A.; Tarby, Theodore J.; Bird, C. Roger; Heidenreich, Randall A. (May 2000) [3 May 2001]. "Fumaric aciduria: clinical and imaging features". Ann. Neurol. 47 (5): 583–8. doi:10.1002/1531-8249(200005)47:5<583::AID-ANA5>3.0.CO;2-Y. PMID 10805328. S2CID 10448322.
Gellera, C.; Uziel, G.; Rimoldi, M.; Zeviani, M.; Laverda, A.; Carrara, F.; DiDonato, S. (March 1990). "Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes". Neurology. 40 (3 Part 1): 495–499. doi:10.1212/wnl.40.3_part_1.495. PMID 2314594. S2CID 1292556.
Zeng, Wen-Qi; Gao, Hanlin; Brueton, Louise; Hutchin, Tim; Gray, George; Chakrapani, Anupam; Olpin, Simon; Shih, Vivian E. (1 May 2006) [30 March 2006]. "Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1". Am. J. Med. Genet. A. 140A (9): 1004–1009. doi:10.1002/ajmg.a.31186. PMID 16575891. S2CID 38553151.

web.archive.org

"Fumarase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 8 April 2019. Retrieved 8 April 2019.
Dougherty, John (December 29, 2005). "Forbidden Fruit: Inbreeding among polygamists along the Arizona-Utah border is producing a caste of severely retarded and deformed children". The Phoenix New Times News. p. 2. Archived from the original on 2015-04-20. Retrieved 2008-04-16.
Hollenhorst, John (February 8, 2006). "Birth defect is plaguing children in FLDS towns: Fumarase Deficiency afflicts 20, is linked to marriages of close Kin". Deseret News. Archived from the original on February 16, 2006.