Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia-Reference-Cited by-同舟云学术

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Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia

Published:2018-02 Issue:2 Volume:28 Page:158-164
ISSN:0939-4753
Container-title:Nutrition, Metabolism and Cardiovascular Diseases
language:en
Short-container-title:Nutrition, Metabolism and Cardiovascular Diseases

Author:

Caddeo A.,Mancina R.M.^ORCID,Pirazzi C.,Russo C.,Sasidharan K.,Sandstedt J.,Maurotti S.,Montalcini T.,Pujia A.,Leren T.P.,Romeo S.,Pingitore P.

Funder

Swedish Research Council

Swedish Heart-Lung Foundation

Swedish Federal Government

Novonordisk Foundation Grant for Excellence in Endocrinology

Swedish Diabetes Foundation

Wilhelm and Martina Lundgren Science Fund

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Medicine (miscellaneous)

Reference35 articles.

1. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy;Mailly;Hum Mutat,1997

2. Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline;Berglund;J Clin Endocrinol Metab,2012

3. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management;Hegele;Lancet Diabetes Endocrinol,2014

4. Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency;Rodrigues;J Clin Lipidol,2016

5. The familial chylomicronemia syndrome;Santamarina-Fojo;Endocrinol Metab Clin North Am,1998

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1. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review;Frontiers in Endocrinology;2024-06-07

2. Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population;Archives of Endocrinology and Metabolism;2024

3. Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis;Kidney International Reports;2023-11

4. Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes;Frontiers in Genetics;2023-03-30

5. Whole-genome resequencing and bisulfite sequencing provide new insights into the feeding habit domestication in mandarin fish (Siniperca chuatsi);Frontiers in Genetics;2023-01-12

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