Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure...

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Detalles Bibliográficos
Autores principales: Ferreira, Helena, Ramos, Raquel Nuñez, Quan, Cinthia Flores, Ferreiro, Susana Redecillas, Ruiz, Vanessa Cabello, Juampérez Goñi, Javi, Quintero Bernabeu, Jesus, Segarra Cantón, Oscar, Álvarez Beltran, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915691/
https://www.ncbi.nlm.nih.gov/pubmed/29713611
http://dx.doi.org/10.5223/pghn.2018.21.2.134

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