Transient infantile hypertriglyceridemia and hepatosteatosis
Name: |
Transient infantile hypertriglyceridemia and hepatosteatosis
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Description: |
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
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ORPHAcode: |
300293
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Synonyms: |
Transient infantile hypertriglyceridemia and fatty liver
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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