Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia-Reference-Cited by-同舟云学术

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Published:2009-03 Issue:1-2 Volume:401 Page:51-56
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Najah Mohamed,Di Leo Enza,Awatef Jelassi,Magnolo Lucia,Imene Jgurim,Pinotti Elisa,Bahri Mahjoub,Barsaoui Sihem,Brini Ines,Fekih Moncef,Slimane Mohamed Naceur,Tarugi Patrizia

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference41 articles.

1. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins;Kane,2001

2. The role of the microsomal triglyceride transfer protein in abetalipoproteinemia;Berriot-Varoqueaux;Ann Rev Nutr,2000

3. Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation;Granot;Am J Clin Nutr,2004

4. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients;Chowers;Eye,2001

5. Abetalipoproteinemia: two case reports and a literature review;Zamel;Orphanet J Rare Dis,2008

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1. Congenital Disorders of Lipid Transport;Textbook of Pediatric Gastroenterology, Hepatology and Nutrition;2021-11-25

2. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases;Journal of Clinical Laboratory Analysis;2020-11-30

3. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia;Journal of Clinical Lipidology;2019-11

4. Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families;Journal of Clinical Lipidology;2019-01

5. Genetic Regulation of Intestinal Lipid Transport and Metabolism;Physiology of the Gastrointestinal Tract;2018