| 词条 | Lathosterolosis |
| 释义 |
| name = Lathosterolosis | synonyms = | image = Lathosterol.png | caption = Lathosterol | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Lathosterolosis is a defect in cholesterol biosynthesis.[1][2][3] See also
References1. ^{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=Spec No 1 |issue= |pages=R75–88 |series=12 |date=April 2003 |pmid=12668600 |doi= 10.1093/hmg/ddg072|url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600}} 2. ^{{cite journal |vauthors=Brunetti-Pierri N, Corso G, Rossi M, etal |title=Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase |journal=Am. J. Hum. Genet. |volume=71 |issue=4 |pages=952–8 |date=October 2002 |pmid=12189593 |pmc=378549 |doi=10.1086/342668 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60379-6}} 3. ^{{cite journal |vauthors=Krakowiak PA, Wassif CA, Kratz L, etal |title=Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency |journal=Hum. Mol. Genet. |volume=12 |issue=13 |pages=1631–41 |date=July 2003 |pmid=12812989 |doi= 10.1093/hmg/ddg172|url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12812989}} External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 607330 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Defects of steroid metabolism}}{{endocrine-disease-stub}} 1 : Cholesterol and steroid metabolism disorders |
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