A novel pathogenic variant in LCAT causing FLD. A case report-Reference-Cited by-同舟云学术

A novel pathogenic variant in LCAT causing FLD. A case report

Published:2021-11-18 Issue: Volume: Page:1-6
ISSN:1784-3286
Container-title:Acta Clinica Belgica
language:en
Short-container-title:Acta Clinica Belgica

Author:

Goñi Ros Nuria¹^ORCID,González-Tarancón Ricardo¹,Sienes Bailo Paula¹^ORCID,Salvador-Ruperez Elvira¹,Puzo Bayod Martín²,Puzo Foncillas José³⁴

Affiliation:

1. Department of Clinical Biochemistry and Clinical Genetics, Hospital Universitario Miguel Servet, Zaragoza, Spain

2. Department of Ophthalmology, Hospital Universitario Miguel Servet, Zaragoza, Spain

3. Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (Iis-aragón), Zaragoza, Spain

4. Department of Clinical Biochemistry, Hospital Universitario San Jorge, Huesca, Spain

Publisher

Informa UK Limited

Subject

General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/17843286.2021.2007598

Reference23 articles.

1. Angeborene Störungen des High-density-Lipoprotein-Stoffwechsels

2. Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020

3. National Center for Advancing Translational Sciences (NIH). Genetic and Rare Diseases Information Centre (GARD). [Accessed21 October 2021]. https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease

4. A review on lecithin:cholesterol acyltransferase deficiency

5. Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations;The Application of Clinical Genetics;2024-02