[Abetalipoproteinemia: case report]. / Abetalipoproteinemia: descrizione di un caso.
Minerva Pediatr
; 45(11): 463-6, 1993 Nov.
Article
em It
| MEDLINE
| ID: mdl-8133839
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Abetalipoproteinemia
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
It
Ano de publicação:
1993
Tipo de documento:
Article