Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia-Reference-Cited by-同舟云学术

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia

Published:2018-09 Issue:5 Volume:12 Page:1253-1259
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Péterfy Miklós,Bedoya Candy,Giacobbe Carola,Pagano Carmen,Gentile Marco,Rubba Paolo,Fortunato Giuliana,Di Taranto Maria Donata^ORCID

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference20 articles.

1. Hypertriglyceridemia;Brahm;Nutrients,2013

2. Chylomicronaemia--current diagnosis and future therapies;Brahm;Nat Rev Endocrinol,2015

3. Update on the molecular biology of dyslipidemias;Ramasamy;Clin Chim Acta,2016

4. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism;Peterfy;Biochim Biophys Acta,2012

5. GPIHBP1 and plasma triglyceride metabolism;Fong;Trends Endocrinol Metab,2016

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