| 词条 | Desmosterolosis |
| 释义 |
| name = Desmosterolosis | synonyms = | image = Desmosterol.png | caption = Desmosterol | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}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] References1. ^{{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 }} 2. ^{{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}} 3. ^{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61125-2}} External links{{Medical resources| DiseasesDB = | ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 602398 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 35107 }}{{Defects of steroid metabolism}}{{endocrine-disease-stub}} 1 : Cholesterol and steroid metabolism disorders |
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