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    Indian J Endocrinol Metab. 2012 Jul;16(4):643-5. doi: 10.4103/2230-8210.98032.

    Homozygous familial hypercholesterolemia.

    Source

    Department of Pediatrics, S.M.G.S Hospital, G.M.C Jammu, Jammu and Kashmir, India.

    Abstract

    Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile consistent with FH.

    KEYWORDS:

    Familial hypercholesterolemia, homozygous and heterozygous state, low density lipoprotein cholesterol, xanthoma

    PMID:
    22837934
    [PubMed]
    PMCID:
    PMC3401774
    Free PMC Article

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