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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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Главные авторы: Mithat Bahçeci, Haluk Mekik, Selen Bahçeci
Формат: Artigo
Язык:Inglês
Опубликовано: Society of Endocrinology and Metabolism of Turkey 2022-03-01
Серии:Endocrinology Research and Practice
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Online-ссылка:https://www.endocrinolrespract.org/index.php/pub/article/view/24
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