ArticlePediatric gastroenterology, hepatology & nutrition2018
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease.
Article in Pediatric gastroenterology, hepatology & nutrition, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 10 citations in OpenAlex.
- Case Report: Neonatal-onset chylomicron retention disease presenting as isolated failure to thrive with compound heterozygousFrontiers in pediatrics · 2026Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria.BMC pediatrics · 2021Article
- Regulation of intestinal lipid metabolism: current concepts and relevance to disease.Nature reviews. Gastroenterology & hepatology · 2020Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in
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Registered trials
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