Malformation syndromes due to inborn errors of cholesterol synthesis.

Forbes D Porter

Journal: The Journal of clinical investigation 2002;110(6):715-24

PMID: 12235098

Free Full Text on American Society for Clinical Investigation View on PubMed

Abstract

Address: Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA. [email protected]

DOI: 10.1172/JCI16386

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MeSH Terms: Abnormalities, Multiple, Central Nervous System, Cholesterol, Humans, Metabolism, Inborn Errors, Molecular Structure, Syndrome