Abetalipoproteinemia: two case reports and literature review
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چکیده
منابع مشابه
Abetalipoproteinemia: two case reports and literature review
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2008
ISSN: 1750-1172
DOI: 10.1186/1750-1172-3-19