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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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society of Endocrinology and Metabolism of Turkey
2022-03-01
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| Colecção: | Endocrinology Research and Practice |
| Assuntos: | |
| Acesso em linha: | https://www.endocrinolrespract.org/index.php/pub/article/view/24 |
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