Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia-Reference-Cited by-同舟云学术

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia

Published:2017-07 Issue: Volume:262 Page:71-77
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Buonuomo Paola Sabrina,Iughetti Lorenzo,Pisciotta Livia,Rabacchi Claudio,Papadia Francesco,Bruzzi Patrizia,Tummolo Albina,Bartuli Andrea,Cortese Claudio^ORCID,Bertolini Stefano,Calandra Sebastiano

Funder

University of Genova

Emilia-Romagna Region Rare Disease project

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

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3. Homozygous autosomal dominant hypercholesterolaemia in The Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome;Sjouke;Eur. Heart J.,2015

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2. Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA);Nutrition, Metabolism and Cardiovascular Diseases;2024-08

3. Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations;Blood Advances;2024-05-20

4. Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?;JCEM Case Reports;2024-04-23

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