Article

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

2025-06-23

Abstract excerpt

Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptoms and can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multiple disorders...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 17dd2d29-0575-543e-a10e-9df508febcdd
DOI: 10.1101/2025.06.23.25328695

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of DiseasesDOI 10.1101/2025.06.23.25328695Read

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused DiseaseSemantic proximity Read

Lipidomics—Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic DiseasesSemantic proximity Read

Inherited disorders of cholesterol biosynthesisSemantic proximity Read

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of DiseaseSemantic proximity Read

Autosomal recessive hypercholesterolemia: update for 2020.Semantic proximity Read

Human biochemical genetics: an insight into inborn errors of metabolism.Semantic proximity Read

Selective Metabolic Screening from a Neonatology PerspectiveSemantic proximity Read

Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position Statement.Semantic proximity Read

Inherited disorders of cholesterol biosynthesis.Semantic proximity Read

Expanded newborn screening for inborn errors of metabolism in Isfahan Province: the first two-year report from Central IranSemantic proximity Read

An overview of inborn errors of complex lipid biosynthesis and remodelling.Semantic proximity Read

Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinicsSemantic proximity Read