Concept information
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Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
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Metabolic Diseases
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
Preferred term
Hypobetalipoproteinemias
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- Familial Hypobetalipoproteinemia
- Hypo beta Lipoproteinemia
- Hypobetalipoproteinemia
- Hypo beta Lipoproteinemias
Scope note
- Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.
History note
- 2007 (1978)
In other languages
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Finnish
-
beetalipoproteiinien vajaus
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hypobeetalipoproteinemiat
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hypobetalipoproteinaemia
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Swedish
URI
http://www.yso.fi/onto/mesh/D006995
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