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Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Hypobetalipoproteinemia, Familial, Apolipoprotein B
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Hypobetalipoproteinemia, Familial, Apolipoprotein B
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Hypolipoproteinemias > Hypobetalipoproteinemias > Hypobetalipoproteinemia, Familial, Apolipoprotein B
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Dyslipidemias > Hypolipoproteinemias > Hypobetalipoproteinemias > Hypobetalipoproteinemia, Familial, Apolipoprotein B

Terme préférentiel

Hypobetalipoproteinemia, Familial, Apolipoprotein B  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.

Concept générique

Synonyme(s)

  • Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type
  • Apolipoprotein B Deficiency
  • Apolipoprotein B Deficiency Disease
  • Hypobetalipoproteinemia, Familial, Apo B

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-W4PFJJMG-1

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 01/07/2021