[New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered].
Starck
L
L
Sachsska barnsjukhuset, Stockholm.
Björkhem
I
I
Lund
E
E
von Döbeln
U
U
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000378:metabolism* / Q000628:therapy; D002648:Child; D002784:Cholesterol / Q000096:biosynthesis* / Q000737:chemistry; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism* / Q000628:therapy; D011296:Prenatal Diagnosis; D013577:Syndrome
D002784:Cholesterol
Nya möjligheter för barn med Smith-Lemli-Opitz syndrom. Defekt upptäckt i kolesterolsyntesen.