Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

BACKGROUND: Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation. CASE P...

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Detalles Bibliográficos
Autores principales: Doya, Leen Jamel, Mohammad, Lava, Omran, Razan, Ibrahim, Alexander Ali, Yousef, Nizar, Ibrahim, Ali, Houreih, Mohammad Adib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504087/
https://www.ncbi.nlm.nih.gov/pubmed/34629076
http://dx.doi.org/10.1186/s12887-021-02897-5

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