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Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan

Chylomicron retention disease (CMRD), also known as Anderson’s disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdomin...

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Detalles Bibliográficos
Autores principales: Kumar, Sohail, Nanjiani, Deedar, Tahir, Faryal, Azim, Dua, Parkash, Oam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7124881/
https://www.ncbi.nlm.nih.gov/pubmed/32257723
http://dx.doi.org/10.7759/cureus.7184