Defisiensi fumarase (Indonesian Wikipedia)
Analysis of information sources in references of the Wikipedia article "Defisiensi fumarase" in Indonesian language version.
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archive.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.
biomedcentral.com
- 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.
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.
digitaljournal.com
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.
- 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.
- 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.
nih.gov
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.
- 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.
- 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.
omim.org
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. hlm. 2. Diarsipkan dari versi asli tanggal 2015-04-20. Diakses tanggal 2017-08-14.
reuters.com
- Szep, Jason (June 14, 2007). "Polygamist community faces rare genetic disorder". Reuters.
web.archive.org
- 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. hlm. 2. Diarsipkan dari versi asli tanggal 2015-04-20. Diakses tanggal 2017-08-14.