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ABETALIPOPROTEINEMIA [1 record]
Record 1 - internal organization data 2012-07-19
Record 1, English
Record 1, Subject field(s)
- Endocrine System and Metabolism
- Genetics
Record 1, Main entry term, English
- abetalipoproteinemia
1, record 1, English, abetalipoproteinemia
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 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. 2, record 1, English, - abetalipoproteinemia
Record 1, French
Record 1, Domaine(s)
- Systèmes endocrinien et métabolique
- Génétique
Record 1, Main entry term, French
- abêtalipoprotéinémie
1, record 1, French, ab%C3%AAtalipoprot%C3%A9in%C3%A9mie
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 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 [...] 1, record 1, French, - ab%C3%AAtalipoprot%C3%A9in%C3%A9mie
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Sistemas endocrino y metabólico
- Genética
Record 1, Main entry term, Spanish
- abetalipoproteinemia
1, record 1, Spanish, abetalipoproteinemia
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 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. 1, record 1, Spanish, - abetalipoproteinemia
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