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Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
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Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management. Am J Med Genet. 1994 May 01; 50(4):375-6.
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subject areas
Abnormalities, Multiple
Abnormalities, Multiple
Bile Acids and Salts
Bile Acids and Salts
Cholesterol
Cholesterol
Cholesterol, Dietary
Cholesterol, Dietary
Dehydrocholesterols
Dehydrocholesterols
Face
Face
Female
Female
Humans
Humans
Infant
Infant
Intellectual Disability
Intellectual Disability
Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Microcephaly
Microcephaly
Syndrome
Syndrome