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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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Bibliografiske detaljer
Principais autores: Mithat Bahçeci, Haluk Mekik, Selen Bahçeci
Format: Artigo
Sprog:Inglês
Udgivet: Society of Endocrinology and Metabolism of Turkey 2022-03-01
Serier:Endocrinology Research and Practice
Fag:
Online adgang:https://endocrinolrespract.org/index.php/pub/article/view/24
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