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ABETALIPOPROTEINEMIA [1 record]

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Record 1 2012-07-19

English

Subject field(s)
  • Endocrine System and Metabolism
  • Genetics
CONT

Abetalipoproteinemia. This rare disease represents a defect in chylomicron formation. The intestinal cells are lacking apoprotein B, and therefore fat absorption cannot occur normally.

French

Domaine(s)
  • Systèmes endocrinien et métabolique
  • Génétique
CONT

L'étude des troubles génétiques du transport des graisses contribue à élucider les mécanismes de manutention intestinale des lipides et du métabolisme des lipoprotéines. [...] l'abêtalipoprotéinémie est causée par l'absence de la protéine de transfert microsomiale [...]

Spanish

Campo(s) temático(s)
  • Sistemas endocrino y metabólico
  • Genética
DEF

Síndrome hereditario autosómico recesivo, poco frecuente, caracterizado por la ausencia de betalipoproteínas séricas, hipocolesterolemia, acantocitosis, esteatorrea por malabsorción, retinitis pigmentaria, ataxia y retraso mental.

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