Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An overview of inborn errors of complex lipid biosynthesis and remodelling.

Journal of inherited metabolic disease - 1 Jan 2015

Lamari Foudil, Mochel Fanny, Saudubray Jean-Marie

Abstract excerpt

In a review published in 2012, we delineated 14 inborn errors of metabolism (IEM) related to defects in biosynthesis of complex lipids, particularly phospholipids and sphingolipids (Lamari et al 2013). Given the numerous roles played by these molecules in membrane integrity, cell structure and function, this group of diseases is rapidly expanding as predicted. Almost 40 new diseases related to genetic defects in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Energy Metabolism
Share to Epidermis
Share to Fatty Acids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lipid Metabolism

Share to Metabolism, Inborn Errors

Share to Phospholipids

Share to Sphingolipids

Source

Identifiers

PMID: 25238787
DOI: 10.1007/s10545-014-9764-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An overview of inborn errors of complex lipid biosynthesis and remodelling.PMID 25238787Read ↗

Inherited disorders of complex lipid metabolism: A clinical review.Semantic proximity Read ↗

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Semantic proximity Read ↗

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Semantic proximity Read ↗

Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiologySemantic proximity Read ↗

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.Semantic proximity Read ↗

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practiceSemantic proximity Read ↗

Human genetic disorders of sphingolipid biosynthesis.Semantic proximity Read ↗

IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE).Semantic proximity Read ↗

[Pulmonary phenotypes of inborn errors of metabolism].Semantic proximity Read ↗

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

Genetic diseases of sphingolipid metabolism: Pathological mechanisms and therapeutic optionsSemantic proximity Read ↗

Inborn errors of cytoplasmic triglyceride metabolism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.