A novel homozygous mutation causing lecithin–cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia-Reference-Cited by-同舟云学术

A novel homozygous mutation causing lecithin–cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia

Published:2017-11 Issue:6 Volume:11 Page:1475-1479.e3
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Rial-Crestelo David,Santos-Recuero Ildefonso,Julve Josep,Blanco-Vaca Francisco,Torralba Miguel

Publisher

Elsevier BV

Subject

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

Reference18 articles.

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3. Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia;Conca;J Clin Lipidol,2012

4. Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature;Roshan;J Clin Lipidol,2011

5. Biochemistry and clinical relevance of lipoprotein X;Narayanan;Ann Clin Lab Sci,1984

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1. A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency;Journal of Lipid Research;2022-03

2. LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred;Lipids in Health and Disease;2021-07-13

3. LCAT deficiency and pregnancy: Case report;Obstetric Medicine;2020-09-09

4. Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency;Journal of Clinical Medicine;2019-11-03

5. Controversy over the atherogenicity of lipoprotein-X;Current Opinion in Endocrinology, Diabetes & Obesity;2019-04