Desmosterolosis: Difference between revisions
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| name = Desmosterolosis |
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| image = Desmosterol.png |
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| caption = [[Desmosterol]] |
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'''Desmosterolosis''' is a defect in [[cholesterol]] biosynthesis.<ref name="pmid12668600">{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=12 Spec No 1 |issue= |pages=R75–88 |date=April 2003 |pmid=12668600 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600 | doi = 10.1093/hmg/ddg072 }}</ref> It results in an accumulation of [[desmosterol]].<ref name="pmid9450875">{{cite journal |vauthors=FitzPatrick DR, Keeling JW, Evans MJ, etal |title=Clinical phenotype of desmosterolosis |journal=Am. J. Med. Genet. |volume=75 |issue=2 |pages=145–52 |date=January 1998 |pmid=9450875|doi=10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S}}</ref> |
'''Desmosterolosis''' is a defect in [[cholesterol]] biosynthesis.<ref name="pmid12668600">{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=12 Spec No 1 |issue= |pages=R75–88 |date=April 2003 |pmid=12668600 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600 | doi = 10.1093/hmg/ddg072 }}</ref> It results in an accumulation of [[desmosterol]].<ref name="pmid9450875">{{cite journal |vauthors=FitzPatrick DR, Keeling JW, Evans MJ, etal |title=Clinical phenotype of desmosterolosis |journal=Am. J. Med. Genet. |volume=75 |issue=2 |pages=145–52 |date=January 1998 |pmid=9450875|doi=10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S}}</ref> |
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==References== |
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| ICD10 = Q87.8 |
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| OMIM = 602398 |
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| Orphanet = 35107 |
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{{Defects of steroid metabolism}} |
{{Defects of steroid metabolism}} |
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Revision as of 15:50, 28 April 2018
 | This article provides insufficient context for those unfamiliar with the subject. (October 2010) |
| Desmosterolosis | |
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| Desmosterol |
Desmosterolosis is a defect in cholesterol biosynthesis.[1] It results in an accumulation of desmosterol.[2]
It has been associated with 24-dehydrocholesterol reductase.[3]
References
- ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1: R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
- ^ FitzPatrick DR, Keeling JW, Evans MJ, et al. (January 1998). "Clinical phenotype of desmosterolosis". Am. J. Med. Genet. 75 (2): 145–52. doi:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S. PMID 9450875.
- ^ Waterham HR, Koster J, Romeijn GJ, et al. (October 2001). "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis". Am. J. Hum. Genet. 69 (4): 685–94. doi:10.1086/323473. PMC 1226055. PMID 11519011.
External links
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