Abstract
A kindred with four generation vertical transmission of familial hypobeta-lipoproteinemia was ascertained by measurement of low levels of cord blood low density lipoprotein cholesterol (C-LDL) in a propositus neonate. Measurement of cord blood C-LDL in conjunction with family studies allows the neonatal diagnosis of familial hypobetalipoproteinemia.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Aged
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Child
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Cholesterol / blood
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Female
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Fetal Blood / analysis
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Follow-Up Studies
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Humans
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Infant
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Infant, Newborn
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Infant, Newborn, Diseases / genetics*
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Lipoproteins, LDL / analysis
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Lipoproteins, LDL / blood
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Lipoproteins, LDL / deficiency*
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Male
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Middle Aged
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Pedigree
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Triglycerides / blood
Substances
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Lipoproteins, LDL
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Triglycerides
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Cholesterol