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Abetalipoproteinemia (Bassen-Kornzweig Syndrome)

ABSTRACT Abetalipoproteinemia is an autosomal recessive disease which was first reported by Bassen and Kornzweig in 1952 with the findings of acanthocytosis, retinitis pigmentosa, low plasma cholesterol levels and neurological derangements. The diagnosis of abetalipoproteinemia was established in...

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Hlavní autoři: Mithat Bahçeci, Haluk Mekik, Selen Bahçeci
Médium: Artigo
Jazyk:Inglês
Vydáno: Society of Endocrinology and Metabolism of Turkey 2022-03-01
Edice:Endocrinology Research and Practice
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On-line přístup:https://www.endocrinolrespract.org/index.php/pub/article/view/24
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