Abetalipoproteinemia: descrizione di un caso.

Translated title of the contribution: Abetalipoproteinemia: case report

G. Guariso, M. S. Chiarelli, C. Nichetti, M. C. Montesco, L. Zancan

Research output: Contribution to journalArticlepeer-review

Abstract

The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia. We describe here the case of a 3 year old girl.

Translated title of the contributionAbetalipoproteinemia: case report
Original languageItalian
Pages (from-to)463-466
Number of pages4
JournalMinerva Pediatrica
Volume45
Issue number11
Publication statusPublished - Nov 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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