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 journalArticle

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.

Original languageItalian
Pages (from-to)463-466
Number of pages4
JournalMinerva Pediatrica
Volume45
Issue number11
Publication statusPublished - Nov 1993

Fingerprint

Abetalipoproteinemia
Steatorrhea
Chylomicrons
Lymphatic System
Retinitis Pigmentosa
Enterocytes
Ataxia
Nervous System Diseases
Erythrocytes
Fats
Growth
Proteins

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Guariso, G., Chiarelli, M. S., Nichetti, C., Montesco, M. C., & Zancan, L. (1993). Abetalipoproteinemia: descrizione di un caso. Minerva Pediatrica, 45(11), 463-466.

Abetalipoproteinemia : descrizione di un caso. / Guariso, G.; Chiarelli, M. S.; Nichetti, C.; Montesco, M. C.; Zancan, L.

In: Minerva Pediatrica, Vol. 45, No. 11, 11.1993, p. 463-466.

Research output: Contribution to journalArticle

Guariso, G, Chiarelli, MS, Nichetti, C, Montesco, MC & Zancan, L 1993, 'Abetalipoproteinemia: descrizione di un caso.', Minerva Pediatrica, vol. 45, no. 11, pp. 463-466.
Guariso G, Chiarelli MS, Nichetti C, Montesco MC, Zancan L. Abetalipoproteinemia: descrizione di un caso. Minerva Pediatrica. 1993 Nov;45(11):463-466.
Guariso, G. ; Chiarelli, M. S. ; Nichetti, C. ; Montesco, M. C. ; Zancan, L. / Abetalipoproteinemia : descrizione di un caso. In: Minerva Pediatrica. 1993 ; Vol. 45, No. 11. pp. 463-466.
@article{aa530e0f7df6491bae5b2e231d2db5c6,
title = "Abetalipoproteinemia: descrizione di un caso.",
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.",
author = "G. Guariso and Chiarelli, {M. S.} and C. Nichetti and Montesco, {M. C.} and L. Zancan",
year = "1993",
month = "11",
language = "Italian",
volume = "45",
pages = "463--466",
journal = "Minerva Pediatrica",
issn = "0026-4946",
publisher = "Edizioni Minerva Medica S.p.A.",
number = "11",

}

TY - JOUR

T1 - Abetalipoproteinemia

T2 - descrizione di un caso.

AU - Guariso, G.

AU - Chiarelli, M. S.

AU - Nichetti, C.

AU - Montesco, M. C.

AU - Zancan, L.

PY - 1993/11

Y1 - 1993/11

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027690340&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027690340&partnerID=8YFLogxK

M3 - Articolo

C2 - 8133839

AN - SCOPUS:0027690340

VL - 45

SP - 463

EP - 466

JO - Minerva Pediatrica

JF - Minerva Pediatrica

SN - 0026-4946

IS - 11

ER -