A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient-Reference-Cited by-同舟云学术

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A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient

Published:2019-02-01 Issue:2 Volume:26 Page:136-144
ISSN:1340-3478
Container-title:Journal of Atherosclerosis and Thrombosis
language:en
Short-container-title:JAT

Author:

Liu Yihui¹,Xu Jiang²,Tao Wanyun³,Yu Rong⁴,Zhang Xinjiang¹²

Affiliation:

1. Department of Neurology, Affiliated Hospital of Yangzhou University

2. Medical School of Yangzhou University

3. Department of Biochemistry, School of Medicine, Case Western Reserve University

4. Department of Anesthesiology, the Second XiangYa Hospital, Central South University

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry, medical,Cardiology and Cardiovascular Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/jat/26/2/26_44537/_pdf

Reference38 articles.

1. 1) de Graaf J, Couture P, Sniderman A: A diagnostic algorithm for the atherogenic apolipoprotein B dyslipoproteinemias. Nat Clin Pract Endocrinol Metab, 2008; 4: 608-618

2. 2) Talmud PJ, Smart M, Presswood E, Cooper JA, Nicaud V, Drenos F, Palmen J, Marmot MG, Boekholdt SM, Wareham NJ, Khaw KT, Kumari M, Humphries SE: ANGPTL4 E40K and T266M: effects on plasma triglyceride and HDL levels, postprandial responses, and CHD risk. Arterioscler Thromb Vasc Biol, 2008; 28: 2319-2325

3. 3) Fellin R, Baggio G, Poli A, Augustin J, Baiocchi MR, Baldo G, Sinigaglia M, Greten H, Crepaldi G: Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives. Atherosclerosis, 1983; 49: 55-68

4. 4) Avis HJ, Scheffer HJ, Kastelein JJ, Dallinga-Thie GM, Wijburg FA: Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene. Clin Genet, 2010; 77: 430-433

5. 5) Rahalkar AR, Hegele RA: Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab, 2008; 93: 282-294

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1. Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia – Case Report and Literature Review;Journal of Atherosclerosis and Thrombosis;2024-07-01

2. The Role of Triglyceride-rich Lipoproteins and Their Remnants in Atherosclerotic Cardiovascular Disease;European Cardiology Review;2023-09-28

3. Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene;Frontiers in Genetics;2022-08-16

4. Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador;Journal of Clinical Lipidology;2022-05

5. Current Diagnosis and Management of Primary Chylomicronemia;Journal of Atherosclerosis and Thrombosis;2021-09-01

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