Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Hoffmann, G

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. [electronic resource] - The New England journal of medicine Jun 1986 - 1610-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0028-4793

10.1056/NEJM198606193142504 doi


Amniotic Fluid--analysis
Cataract--etiology
Child, Preschool
Cholesterol--biosynthesis
Failure to Thrive--etiology
Female
Fetal Diseases--diagnosis
Humans
Male
Metabolism, Inborn Errors--diagnosis
Mevalonic Acid--analysis
Phosphotransferases--deficiency
Phosphotransferases (Alcohol Group Acceptor)
Pregnancy
Prenatal Diagnosis
Sterols--biosynthesis
Terpenes--biosynthesis