Desmosterolosis: Difference between revisions
Content deleted Content added
Ozzie10aaaa (talk | contribs) Alter: issue. | You can use this tool yourself. Report bugs here. |
Removed URL that duplicated unique identifier. | You can use this tool yourself. Report bugs here. |
||
| Line 26: | Line 26: | ||
'''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= 90001|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= 90001|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> |
||
It has been associated with [[24-dehydrocholesterol reductase]].<ref name="pmid11519011">{{cite journal |vauthors=Waterham HR, Koster J, Romeijn GJ, etal |title=Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis |journal=Am. J. Hum. Genet. |volume=69 |issue=4 |pages=685–94 |date=October 2001 |pmid=11519011 |pmc=1226055 |doi=10.1086/323473 |
It has been associated with [[24-dehydrocholesterol reductase]].<ref name="pmid11519011">{{cite journal |vauthors=Waterham HR, Koster J, Romeijn GJ, etal |title=Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis |journal=Am. J. Hum. Genet. |volume=69 |issue=4 |pages=685–94 |date=October 2001 |pmid=11519011 |pmc=1226055 |doi=10.1086/323473 }}</ref> |
||
==References== |
==References== |
||
Revision as of 08:33, 2 August 2019
 | This article provides insufficient context for those unfamiliar with the subject. (October 2010) |
| Desmosterolosis | |
|---|---|
| Other names | Deficiency of 3beta-hydroxysterol delta24-reductase[1] |
 | |
| Desmosterol | |
Desmosterolosis is a defect in cholesterol biosynthesis.[2] It results in an accumulation of desmosterol.[3]
It has been associated with 24-dehydrocholesterol reductase.[4]
References
- ^ Reference, Genetics Home. "Desmosterolosis". Genetics Home Reference. Retrieved 14 April 2019.
- ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1 (90001): 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
 | This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it. |