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    Metabolism. 1976 Jun;25(6):611-4.

    Neonatal familial hypobeta-lipoproteinemia.

    Glueck CJ, Tsang RC, Mellies MJ, Fallat RW, Steiner tpm.

    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.

    PMID:
    178979
    [PubMed - indexed for MEDLINE]

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