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Concept information

Preferred term

Abetalipoproteinemi  

Type

  • Ämne

Broader concept

Scope note

  • Genetisk brist på betalipoprotein som leder till allvarliga rubbningar i fettomsättningen och resulterar i en symtombild med akantocytos, hypokolesterolemi, tilltagande ataktisk neuropati, atypisk retinitis pigmentosa med spridning till gula fläcken. Kan behandlas med E-vitamin.

In other languages

  • English

  • Acanthocytoses
  • Acanthocytosis
  • Bassen Kornzweig Disease
  • Bassen Kornzweig Syndrome
  • Bassen-Kornzweig Disease
  • Bassen-Kornzweig Syndrome
  • Betalipoprotein Deficiency Disease
  • Betalipoprotein Deficiency Diseases
  • Deficiency Disease, Betalipoprotein
  • Deficiency Diseases, Betalipoprotein
  • Disease, Betalipoprotein Deficiency
  • Diseases, Betalipoprotein Deficiency
  • Microsomal Triglyceride Transfer Protein Deficiency
  • Microsomal Triglyceride Transfer Protein Deficiency Disease
  • Finnish

  • abetalipoproteinaemia

URI

http://www.yso.fi/onto/mesh/D000012

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