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, pos...

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Detalles Bibliográficos
Autores principales: Zamel, Rola, Khan, Razi, Pollex, Rebecca L, Hegele, Robert A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467409/
https://www.ncbi.nlm.nih.gov/pubmed/18611256
http://dx.doi.org/10.1186/1750-1172-3-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467409/
https://www.ncbi.nlm.nih.gov/pubmed/18611256
http://dx.doi.org/10.1186/1750-1172-3-19

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